Full data view for gene PANK2

Information The variants shown are described using the NM_153638.2 transcript reference sequence.

132 entries on 2 pages. Showing entries 1 - 100.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

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Owner     
./. 1 c.391_418del r.(?) p.(Ala131fs) - - Unknown g.3870138_3870165del Lee JH et al. (2016) PANK2_000096 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 1 c.401A>G r.(?) p.(Glu134Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3870148A>G Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000035 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 1 c.434C>A r.(?) p.(Ser145*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.3870181C>A Zolkipli Z1, Dahmoush H, Saunders DE, Chong WK, Surtees R.(2006) PANK2_000016 - ? ? PKAN Zolkipli Z1, Dahmoush H, Saunders DE, Chong WK, Surtees R.(2006) - - 1 Y Yang
./. 1 c.445G>T r.(?) p.(Glu149*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.3870192G>T Song XW1, Wang YL, Shi YW, Deng WY, Chen SQ, Lin H, Yi YH, Liao WP.(2009) PANK2_000055 - ? ? PKAN Song XW1, Wang YL, Shi YW, Deng WY, Chen SQ, Lin H, Yi YH, Liao WP.(2009) - - 1 Y Yang
./. 1 c.445G>T r.(?) p.(Glu149*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.3870192G>T Mak CM1, Sheng B, Lee HH, Lau KK, Chan WT, Lam CW, Chan YW.(2011) PANK2_000055 - ? ? PKAN Mak CM1, Sheng B, Lee HH, Lau KK, Chan WT, Lam CW, Chan YW.(2011) - - 1 Y Yang
./. 1 c.448C>T r.(?) p.(Gln150*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.3870195C>T Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000020 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 1 c.448C>T r.(?) p.(Gln150*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.3870195C>T Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000020 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 1 c.533C>A r.(?) p.(Ser178*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.3870280C>A Rump P1, Lemmink HH, Verschuuren-Bemelmans CC, Grootscholten PM, Fock JM, Hayflick SJ, Westaway SK, Vos YJ, van Essen AJ.(2005) PANK2_000012 - ? ? PKAN Rump P1, Lemmink HH, Verschuuren-Bemelmans CC, Grootscholten PM, Fock JM, Hayflick SJ, Westaway SK, Vos YJ, van Essen AJ.(2005) - - 1 Y Yang
./. 1 c.536_558del23 r.(?) p.(Glu180Glyfs*42) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3870283_3870305del23 Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000065 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 1 c.545_546insA r.(?) p.(Arg183Glufs*47) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.3870292_3870293insA Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000022 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 1 c.545_546insA r.(?) p.(Arg183Glufs*47) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.3870292_3870293insA Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000022 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 1 c.569_570insA r.(?) p.(Tyr190*) VariO:0142 DNA insertion VariO:0015 protein truncation Unknown g.3870316_3870317insA Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000023 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 1 c.569_570insA r.(?) p.(Tyr190*) VariO:0142 DNA insertion VariO:0015 protein truncation Unknown g.3870316_3870317insA Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000023 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 1 c.569_570insA r.(?) p.(Tyr190*) VariO:0142 DNA insertion VariO:0015 protein truncation Unknown g.3870316_3870317insA Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000023 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 1 c.570C>A r.(?) p.(Tyr190*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.3870317C>A Zhou B1, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.(2001) PANK2_000004 - ? ? PKAN Zhou B1, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.(2001) - - 1 Y Yang
./. 1 c.573delC r.(?) p.(Ser191Argfs*14) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3870320delC Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000024 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 1 c.573delC r.(?) p.(Ser191Argfs*14) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3870320delC Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000024 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 1 c.615delG r.(?) p.(Lys207Serfs*46) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3870362delG Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000060 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 1i c.629-2A>T r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.3888571A>T Shan J1, Wen B, Zhu J, Lin P, Zheng J, Yan C.(2013) PANK2_000074 - ? ? PKAN Shan J1, Wen B, Zhu J, Lin P, Zheng J, Yan C.(2013) - - 1 Y Yang
./. 1i c.629-1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.3888572G>A Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000069 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 2 c.638G>A r.(?) p.(Trp213*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation Unknown g.3888582G>A Gatto E, Etcheverry JL, Converso DP, Bidinost C, Rosa A.(2010) PANK2_000051 - ? ? PKAN Gatto E, Etcheverry JL, Converso DP, Bidinost C, Rosa A.(2010) - - 1 Y Yang
./. 2 c.655G>A r.(?) p.(Gly219Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3888599G>A Gatto E, Etcheverry JL, Converso DP, Bidinost C, Rosa A.(2010) PANK2_000052 - ? ? PKAN Gatto E, Etcheverry JL, Converso DP, Bidinost C, Rosa A.(2010) - - 1 Y Yang
./. 2 c.656G>T r.(?) p.(Gly219Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3888600G>T Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000030 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 2 c.656G>T r.(?) p.(Gly219Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3888600G>T Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000030 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 2 c.656G>T r.(?) p.(Gly219Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3888600G>T Morales-Brice?o H1, Chacón-Camacho OF, Pérez-González EA, Arteaga-Vázquez J, Rodríguez-Violante M, Cervantes-Arriaga A, Pérez-Rodríguez L, Zenteno JC, Mutchinick OM.(2014) PANK2_000030 - ? ? PKAN Morales-Brice?o H1, Chacón-Camacho OF, Pérez-González EA, Arteaga-Vázquez J, Rodríguez-Violante M, Cervantes-Arriaga A, Pérez-Rodríguez L, Zenteno JC, Mutchinick OM.(2014) Mexican - 1 Y Yang
./. 2 c.680A>G r.(?) p.(Tyr227Cys) - - Unknown g.3888624A>G Schiessl-Weyer J et al. (2015) PANK2_000083 - ? ? PKAN Schiessl-Weyer J et al. (2015) - - 1 XY Liu
./. 2 c.683T>C r.(?) p.(Phe228Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3888627T>C Chiapparini L1, Savoiardo M, D'Arrigo S, Reale C, Zorzi G, Zibordi F, Cordelli DM, Franzoni E, Garavaglia B, Nardocci N.(2011) PANK2_000080 - ? ? PKAN Chiapparini L1, Savoiardo M, D'Arrigo S, Reale C, Zorzi G, Zibordi F, Cordelli DM, Franzoni E, Garavaglia B, Nardocci N.(2011) - - 1 Y Yang
./. 2 c.695A>G r.(?) p.(Asp232Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3888639A>G Tanteles GA1, Spanou-Aristidou E1, Antoniou C2, Christophidou-Anastasiadou V1, Kleopa KA3.(2014) PANK2_000078 - ? ? PKAN Tanteles GA1, Spanou-Aristidou E1, Antoniou C2, Christophidou-Anastasiadou V1, Kleopa KA3.(2014) Cypriot - 1 Y Yang
./. 2 c.700A>G r.(?) p.(Thr234Ala) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3888644A>G Zhou B1, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.(2001) PANK2_000009 - ? ? PKAN Zhou B1, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.(2001) - - 1 Y Yang
./. 2 c.700A>G r.(?) p.(Thr234Ala) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3888644A>G Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000009 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 2 c.746G>C r.(?) p.(Arg249Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3888690G>C Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000036 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 3 c.749delA r.(?) p.(Lys250Serfs*3) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3888693delA Aggarwal A1, Schneider SA, Houlden H, Silverdale M, Paudel R, Paisan-Ruiz C, Desai S, Munshi M, Sanghvi D, Hardy J, Bhatia KP, Bhatt M.(2010) PANK2_000081 - ? ? PKAN Aggarwal A1, Schneider SA, Houlden H, Silverdale M, Paudel R, Paisan-Ruiz C, Desai S, Munshi M, Sanghvi D, Hardy J, Bhatia KP, Bhatt M.(2010) - - 1 Y Yang
./. 2 c.790C>T r.(?) p.(Arg264Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3888734C>T Zhou B1, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.(2001) PANK2_000005 - ? ? PKAN Zhou B1, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.(2001) - - 1 Y Yang
./. 2 c.790C>T r.(?) p.(Arg264Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3888734C>T Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000005 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 2 c.821_822delCT r.(?) p.(Leu275Valfs*16) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3888765_3888766delCT Cangül H1, Ozdemir O, Yakut T, Okan M, Morgan NV, Baytan B, Kurian MA, Spiegel R, Maher ER.(2009) PANK2_000057 - ? ? PKAN Cangül H1, Ozdemir O, Yakut T, Okan M, Morgan NV, Baytan B, Kurian MA, Spiegel R, Maher ER.(2009) - - 1 Y Yang
./. 2 c.823_824del r.(?) p.(Leu275fs) - - Unknown g.3888767_3888768del Lee JH et al. (2016) PANK2_000091 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 2 c.823_824delCT r.(?) p.(Leu275Valfs*16) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3888767_3888768delCT Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000064 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 2 c.832C>T r.(?) p.(Arg278Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3888776C>T Zhou B1, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.(2001) PANK2_000010 - ? ? PKAN Zhou B1, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.(2001) - - 1 Y Yang
./. 2 c.832C>T r.(?) p.(Arg278Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3888776C>T Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000010 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 2 c.844C>G r.(?) p.(Leu282Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3888788C>G Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000037 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 2 c.847C>T r.(?) p.(His283Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3888791C>T Saleheen D, Nazir A, Khanum S, Haider SR, Frossard P.(2005) PANK2_000017 - ? ? PKAN Saleheen D, Nazir A, Khanum S, Haider SR, Frossard P.(2005) - - 1 Y Yang
./. 2 c.856C>T r.(?) p.(Arg286Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3888800C>T Zhou B1, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.(2001) PANK2_000006 - ? ? PKAN Zhou B1, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.(2001) - - 1 Y Yang
./. 2 c.856C>T r.(?) p.(Arg286Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3888800C>T Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000006 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 2 c.863C>T r.(?) p.(Pro288Leu) - - Unknown g.3888807C>T Li YF et al. (2016) PANK2_000084 - ? ? PKAN Li YF et al. (2016) - - 1 XY Liu
./. 2 c.863C>T r.(?) p.(Pro288Leu) - - Unknown g.3888807C>T Lee JH et al. (2016) PANK2_000084 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 2 c.927_933del7 r.(?) p.(Phe311Profs*16) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3888871_3888877del7 Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000067 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 2 c.927_933del7 r.(?) p.(Phe311Profs*16) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3888871_3888877del7 Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000067 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 2 c.936T>A r.(?) p.(Cys312*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.3888880T>A Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000038 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 2 c.965A>G r.(?) p.(Glu322Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3888909A>G Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000039 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 2 c.966G>T r.(?) p.(Glu322Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3888910G>T Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000049 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 2 c.980C>T r.(?) p.(Thr327Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3888924C>T Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000025 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 2 c.980C>T r.(?) p.(Thr327Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3888924C>T Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000025 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 2i c.981+3A>G r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.3888928A>G Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000070 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 2i c.982-1G>C r.(?) p.(?) - - Unknown g.3891223G>C Trachoo O et al. (2017) PANK2_000085 - ? ? PKAN Trachoo O et al. (2017) - - 1 XY Liu
./. 3 c.1003A>G r.(?) p.(Lys335Glu) - - Unknown g.3891245A>G Lee JH et al. (2016) PANK2_000086 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 3 c.1030A>T r.(?) p.(Lys344*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.3891272A>T Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000040 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 3 c.1037T>G r.(?) p.(Ile346Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3891279T>G Doi H1, Koyano S, Miyatake S, Matsumoto N, Kameda T, Tomita A, Miyaji Y, Suzuki Y, Sawaishi Y, Kuroiwa Y.(2010) PANK2_000058 - ? ? PKAN Doi H1, Koyano S, Miyatake S, Matsumoto N, Kameda T, Tomita A, Miyaji Y, Suzuki Y, Sawaishi Y, Kuroiwa Y.(2010) - - 1 Y Yang
./. 3 c.1051T>C r.(?) p.(Ser351Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3891293T>C Zhou B1, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.(2001) PANK2_000008 - ? ? PKAN Zhou B1, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.(2001) - - 1 Y Yang
./. 3 c.1051T>C r.(?) p.(Ser351Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3891293T>C Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000008 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 3 c.1064A>G r.(?) p.(Asn355Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3891306A>G Yamashita S1, Maeda Y, Ohmori H, Uchida Y, Hirano T, Yonemura K, Uyama E, Uchino M.(2004) PANK2_000015 - ? ? PKAN Yamashita S1, Maeda Y, Ohmori H, Uchida Y, Hirano T, Yonemura K, Uyama E, Uchino M.(2004) - - 1 Y Yang
./. 3 c.1070G>A r.(?) p.(Arg357Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3891312G>A Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000041 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 3 c.1085_1089delACTTT r.(?) p.(Tyr362*) VariO:0141 DNA deletion VariO:0015 protein truncation Unknown g.3891327_3891331delACTTT Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000062 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 3 c.1103A>G r.(?) p.(Asp368Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3891345A>G Zhang YH1, Tang BS, Zhao AL, Xia K, Long ZG, Guo JF, Westaway SK, Hayflick SJ.(2005) PANK2_000013 - ? ? PKAN Zhang YH1, Tang BS, Zhao AL, Xia K, Long ZG, Guo JF, Westaway SK, Hayflick SJ.(2005) - - 1 Y Yang
./. 3 c.1124_1152del29 r.(?) p.(Leu375Serfs*11) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3891366_3891394del29 Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000063 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 3 c.1130T>C r.(?) p.(Phe377Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3891372T>C Shan J1, Wen B, Zhu J, Lin P, Zheng J, Yan C.(2013) PANK2_000075 - ? ? PKAN Shan J1, Wen B, Zhu J, Lin P, Zheng J, Yan C.(2013) - - 1 Y Yang
./. 3 c.1133A>G r.(?) p.(Asp378Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3891375A>G Wu YR, Chen CM, Chao CY, Lyu RK, Lee-Chen GJ.(2009) PANK2_000053 - ? ? PKAN Wu YR, Chen CM, Chao CY, Lyu RK, Lee-Chen GJ.(2009) - - 1 Y Yang
./. 3 c.1133A>G r.(?) p.(Asp378Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3891375A>G Song XW1, Wang YL, Shi YW, Deng WY, Chen SQ, Lin H, Yi YH, Liao WP.(2009) PANK2_000053 - ? ? PKAN Song XW1, Wang YL, Shi YW, Deng WY, Chen SQ, Lin H, Yi YH, Liao WP.(2009) - - 1 Y Yang
./. 3 c.1133A>G r.(?) p.(Asp378Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3891375A>G Zhang Y1, Tang B, Guo J, Long Z, Xia K, Pan Q, Hu Z, Wu D, Tang J, Chen T, Yan X.(2005) PANK2_000053 - ? ? PKAN Zhang Y1, Tang B, Guo J, Long Z, Xia K, Pan Q, Hu Z, Wu D, Tang J, Chen T, Yan X.(2005) - - 1 Y Yang
./. 3 c.1133A>G r.(?) p.(Asp378Gly) - - Unknown g.3891375A>G Lee JH et al. (2016) PANK2_000053 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 3 c.1153delCinsTT r.(?) p.(L385fs) - - Unknown g.3891395delCinsTT Lee JH et al. (2016) PANK2_000088 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 3 c.1153delinsTT r.(?) p.(Leu385Phefs*11) VariO:0143 DNA indel VariO:0023 amphigoric amino acid indel Unknown g.3891395delinsTT Yoon WT, Lee WY, Shin HY, Lee ST, Ki CS.(2010) PANK2_000001 - ? ? PKAN Yoon WT, Lee WY, Shin HY, Lee ST, Ki CS.(2010) - - 1 Y Yang
./. 3 c.1154_1155insACT r.(?) p.(Leu387dup) VariO:0142 DNA insertion VariO:0020 sequence retaining amino acid insertion Unknown g.3891396_3891397insACT Seo JH1, Song SK, Lee PH.(2009) PANK2_000068 - ? ? PKAN Seo JH1, Song SK, Lee PH.(2009) - - 1 Y Yang
./. 3 c.1154_1155insTT r.(?) p.(L385fs) - - Unknown g.3891396_3891397insTT Lee JH et al. (2016) PANK2_000089 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 3 c.1176_1177delAG r.(?) p.(Val394*) VariO:0141 DNA deletion VariO:0015 protein truncation Unknown g.3891418_3891419delAG Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000026 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 3 c.1176_1177delAG r.(?) p.(Val394*) VariO:0141 DNA deletion VariO:0015 protein truncation Unknown g.3891418_3891419delAG Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000026 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 3 c.1192G>A r.(?) p.(Ala398Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3891434G>A Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000042 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 3 c.1211A>T r.(?) p.(Asn404Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3891453A>T Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000021 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 3 c.1211A>T r.(?) p.(Asn404Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3891453A>T Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000021 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 3 c.1211A>T r.(?) p.(Asn404Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3891453A>T Morales-Brice?o H1, Chacón-Camacho OF, Pérez-González EA, Arteaga-Vázquez J, Rodríguez-Violante M, Cervantes-Arriaga A, Pérez-Rodríguez L, Zenteno JC, Mutchinick OM.(2014) PANK2_000021 - ? ? PKAN Morales-Brice?o H1, Chacón-Camacho OF, Pérez-González EA, Arteaga-Vázquez J, Rodríguez-Violante M, Cervantes-Arriaga A, Pérez-Rodríguez L, Zenteno JC, Mutchinick OM.(2014) Mexican - 1 Y Yang
./. 4 c.1238T>C r.(?) p.(Leu413Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3893107T>C Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000043 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 4 c.1257del r.(?) p.(Phe419fs) - - Unknown g.3893126del Lee JH et al. (2016) PANK2_000095 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 4 c.1270_1272del r.(?) p.(Leu424del) - - Unknown g.3893139_3893141del Lee JH et al. (2016) PANK2_000090 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 4 c.1273_1275del r.(?) p.(Leu425del) - - Unknown g.3893142_3893144del Lee JH et al. (2016) PANK2_000087 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 4 c.1273_1275delCTT r.(?) p.(Leu425del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion Unknown g.3893142_3893144delCTT Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000061 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 4 c.1283G>A r.(?) p.(Cys428Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3893152G>A Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000044 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 4 c.1301C>T r.(?) p.(Ala434Val) - - Unknown g.3893170C>T Lee JH et al. (2016) PANK2_000098 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 4 c.1319G>C r.(?) p.(Arg440Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3893188G>C Seo JH1, Song SK, Lee PH.(2009) PANK2_000056 - ? ? PKAN Seo JH1, Song SK, Lee PH.(2009) - - 1 Y Yang
./. 4 c.1319G>C r.(?) p.(Arg440Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3893188G>C Lim BC1, Ki CS, Cho A, Hwang H, Kim KJ, Hwang YS, Kim YE, Yun JY, Jeon BS, Lim YH, Paek SH, Chae JH.(2012) PANK2_000056 - ? ? PKAN Lim BC1, Ki CS, Cho A, Hwang H, Kim KJ, Hwang YS, Kim YE, Yun JY, Jeon BS, Lim YH, Paek SH, Chae JH.(2012) Korea - 1 Y Yang
./. 4 c.1319G>C r.(?) p.(Arg440Pro) - - Unknown g.3893188G>C Lee JH et al. (2016) PANK2_000056 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 4 c.1323_1326delAGAT r.(?) p.(Asp442Alafs*7) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3893192_3893195delAGAT Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000066 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 4 c.1323_1326delAGAT r.(?) p.(Asp442Alafs*7) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3893192_3893195delAGAT Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000066 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 4 c.1339G>A r.(?) p.(Asp447Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3893208G>A Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000045 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 4 c.1340A>C r.(?) p.(Asp447Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3893209A>C Aggarwal A1, Schneider SA, Houlden H, Silverdale M, Paudel R, Paisan-Ruiz C, Desai S, Munshi M, Sanghvi D, Hardy J, Bhatia KP, Bhatt M.(2010) PANK2_000034 - ? ? PKAN Aggarwal A1, Schneider SA, Houlden H, Silverdale M, Paudel R, Paisan-Ruiz C, Desai S, Munshi M, Sanghvi D, Hardy J, Bhatia KP, Bhatt M.(2010) - - 1 Y Yang
./. 4 c.1351C>T r.(?) p.(Arg451*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.3893220C>T Zhang YM1, Rock CO, Jackowski S.(2006) PANK2_000019 - ? ? PKAN Zhang YM1, Rock CO, Jackowski S.(2006) - - 1 Y Yang
./. 4 c.1351C>T r.(?) p.(Arg451*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.3893220C>T Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) PANK2_000019 - ? ? PKAN Hayflick SJ1, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J.(2003) - - 1 Y Yang
./. 4 c.1351C>T r.(?) p.(Arg451*) - - Unknown g.3893220C>T Lee JH et al. (2016) PANK2_000019 - ? ? PKAN Lee JH et al. (2016) - - 1 XY Liu
./. 4 c.1355A>G r.(?) p.(Asp452Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3893224A>G Wu YR, Chen CM, Chao CY, Lyu RK, Lee-Chen GJ.(2009) PANK2_000054 - ? ? PKAN Wu YR, Chen CM, Chao CY, Lyu RK, Lee-Chen GJ.(2009) - - 1 Y Yang
./. 4 c.1355_1410del56 r.(?) p.(Asp452Glufs*16) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3893224_3893279del56 Wu YR, Chen CM, Chao CY, Lyu RK, Lee-Chen GJ.(2009) PANK2_000059 - ? ? PKAN Wu YR, Chen CM, Chao CY, Lyu RK, Lee-Chen GJ.(2009) - - 1 Y Yang
./. 4 c.1391C>T r.(?) p.(Pro464Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3893260C>T Chan KY1, Lam CW, Lee LP, Tong SF, Yuen YP.(2008) PANK2_000032 - ? ? PKAN Chan KY1, Lam CW, Lee LP, Tong SF, Yuen YP.(2008) - - 1 Y Yang
./. 4 c.1405G>C r.(?) p.(Ala469Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3893274G>C Morales-Brice?o H1, Chacón-Camacho OF, Pérez-González EA, Arteaga-Vázquez J, Rodríguez-Violante M, Cervantes-Arriaga A, Pérez-Rodríguez L, Zenteno JC, Mutchinick OM.(2014) PANK2_000079 - ? ? PKAN Morales-Brice?o H1, Chacón-Camacho OF, Pérez-González EA, Arteaga-Vázquez J, Rodríguez-Violante M, Cervantes-Arriaga A, Pérez-Rodríguez L, Zenteno JC, Mutchinick OM.(2014) Mexican - 1 Y Yang
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