Unique variants in the GFAP gene

Information The variants shown are described using the NM_002055.4 transcript reference sequence.

106 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
?/. 1 1 c.53G>T r.(53g>u) p.Gly18Val - - g.42992802C>A Carlos Casasnovas, Edgard Verdura, Valentina Vélez, et al. GFAP_000096 - XY Liu
?/. 1 4 c.176G>A r.(716g>a) p.Arg239His - - g.42992679C>T M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing GFAP_000091 - XY Liu
./. 1 1 c.187A>C r.(?) p.(Lys63Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992668T>G 1 more item GFAP_000076 - Y Yang
?/., ./. 2 1 c.197G>A r.(197g>a), r.(?) p.Arg66Gln, p.(Arg66Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42992658C>T Mu-Hui Fu, Yung-Yee Chang, Ni-Hsuan Lin, et al., 1 more item GFAP_000004 - XY Liu, Y Yang
+?/. 1 1 c.205G>A r.(205g>a) p.(Glu69Lys) - - g.42992650C>T Florian Brackmann, Roland Coras, Karl Rössler, Cornelia Kraus, Oliver Rompel, Regina Trollmann GFAP_000093 - XY Liu
./. 1 1 c.208C>T r.(?) p.(Arg70Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42992647G>A Salvi F, Aoki Y, Della Nave R, Vella A, Pastorelli F, Scaglione C, Matsubara Y, Mascalchi M.(2005) GFAP_000075 - Y Yang
./. 1 1 c.209G>A r.(?) p.(Arg70Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42992646C>T 1 more item GFAP_000074 - Y Yang
?/., ./. 2 1 c.218T>A r.(218u>a), r.(?) p.Met73Lys, p.(Met73Lys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992637A>T Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al., 1 more item GFAP_000071 - XY Liu, Y Yang
./. 1 1 c.218T>C r.(?) p.(Met73Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42992637A>G 1 more item GFAP_000072 - Y Yang
./. 1 1 c.218T>G r.(?) p.(Met73Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992637A>C 1 more item GFAP_000073 - Y Yang
?/. 1 1 c.219G>A r.(219g>a) p.Met73Ile - - g.42992636C>T Saar Anis, Tsvia Fay-Karmon, Simon Lassman, et al. GFAP_000108 - XY Liu
?/. 1 1 c.219G>T r.(219g>u) p.(Met73Ile) - - g.42992636C>A Eri Hayano, Mikito Shimizu, Kousuke Baba, et al. GFAP_000099 - XY Liu
./. 1 1 c.221T>C r.(?) p.(Met74Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42992634A>G Ohnari K1, Yamano M, Uozumi T, Hashimoto T, Tsuji S, Nakagawa M.(2007) GFAP_000070 - Y Yang
./. 1 1 c.226C>G r.(?) p.(Leu76Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992629G>C 1 more item GFAP_000068 - Y Yang
./. 1 1 c.226C>T r.(?) p.(Leu76Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42992629G>A 1 more item GFAP_000069 - Y Yang
./. 1 1 c.229A>T r.(?) p.(Asn77Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992626T>A 1 more item GFAP_000067 - Y Yang
./. 1 1 c.230A>G r.(?) p.(Asn77Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42992625T>C 1 more item GFAP_000066 - Y Yang
./. 2 1 c.232G>A r.(?) p.(Asp78Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42992623C>T Wada Y1, Yanagihara C, Nishimura Y, Namekawa M.(2013), Tonduti D et al. (2016) GFAP_000007 - Y Yang, XY Liu
./. 2 1 c.234C>A r.(?) p.(Asp78Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992621G>T Tonduti D et al. (2016), 1 more item GFAP_000065 - Y Yang, XY Liu
./. 1 1 c.235C>G r.(?) p.(Arg79Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992620G>C 1 more item GFAP_000063 - Y Yang
./., ?/. 5 1 c.235C>T, c.(235C>T) r.(?), r.(235c>u) p.(Arg79Cys), p.Arg79Cys VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42992620G>A Ma HW1, Lu JF, Jiang J, Chen LY, Niu GH, Wu BM, Kanazawa N, Tsujino S.(2005), 4 more items GFAP_000064 - Y Yang, XY Liu
?/. 1 1 c.(236G>T) r.(236g>u) p.Arg79Leu - - g.42992619C>A Naohide Shiroma, Naomi Kanazawa, Zenichiro Kato, et al. GFAP_000061 - XY Liu
?/., ./. 6 1 c.236G>A, c.(236G>A) r.(236g>a), r.(?) p.Arg79His, p.(Arg79His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42992619C>T, g.42992619C>A Yumi Matsuyama, Marie Satake, Ryotaro Kamei, Tomokatsu Yoshida, 5 more items GFAP_000009, GFAP_000061 - XY Liu, Y Yang
./. 1 1 c.236G>C r.(?) p.(Arg79Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992619C>G 1 more item GFAP_000062 - Y Yang
?/. 1 1 c.239T>C r.(239u>c) p.(Phe80Ser) - - g.42992616A>G Ayumi Matsumoto, Janyerkye Tulyeu, Rieko Furukawa, et al. GFAP_000094 - XY Liu
./. 1 1 c.247T>C r.(?) p.(Tyr83His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42992608A>G Ye Wu1, Qiang Gu, Jingmin Wang, Yanling Yang, Xiru Wu, Yuwu Jiang.(2008) GFAP_000060 - Y Yang
./. 1 1 c.256_259delinsGAGT r.(?) p.(Lys86_Val87delinsGluPhe) VariO:0143 DNA indel VariO:0029 sequence retaining amino acid indel g.42992596_42992599delinsACTC 1 more item GFAP_000059 - Y Yang
?/. 1 1 c.259G>A r.(259g>a) p.Val87Ile - - g.42992596C>T Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al. GFAP_000100 - XY Liu
./. 1 1 c.259G>C r.(?) p.(Val87Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992596C>G 1 more item GFAP_000002 - Y Yang
./. 1 1 c.262C>A r.(?) p.(Arg88Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992593G>T 1 more item GFAP_000056 - Y Yang
?/., ./. 4 1 c.262C>T, c.(262C>T) r.(262c>u), r.(?) p.Arg88Cys, p.(Arg88Cys) - - g.42992593G>A Safoura Zardadi, Ehsan Razmara, Maryam Rasoulinezhad, et al., Tonduti D et al. (2016), 2 more items GFAP_000057 - XY Liu
./. 1 1 c.269T>C r.(?) p.(Leu90Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42992586A>G Suzuki Y1, Kanazawa N, Takenaka J, Okumura A, Negoro T, Tsujino S.(2004) GFAP_000055 - Y Yang
./. 1 1 c.278A>C r.(?) p.(Gln93Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992577T>G Kyllerman M1, Rosengren L, Wiklund LM, Holmberg E.(2005) GFAP_000054 - Y Yang
./. 1 1 c.290T>C r.(?) p.(Leu97Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42992565A>G Meins M1, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.(2002) GFAP_000053 - Y Yang
./. 1 1 c.302T>C r.(?) p.(Leu101Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42992553A>G 1 more item GFAP_000052 - Y Yang
?/. 1 4 c.343G>A r.(343g>a) p.Val115Ile - - g.42992512C>T Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al. GFAP_000101 - XY Liu
./. 1 1 c.376_381dup r.(?) p.(Arg126_Leu127dup) VariO:0142 DNA insertion VariO:0020 sequence retaining amino acid insertion g.42992474_42992479dup 1 more item GFAP_000083 - Y Yang
?/., ./. 3 1 c.382G>A r.(382g>a), r.(?) p.Asp128Asn, p.(Asp128Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42992473C>T Chang KE et al. (2015), 2 more items GFAP_000051 - XY Liu, Y Yang
?/. 1 1 c.412_444del r.(?) p.Glu138_Leu148del - - g.42992411_42992443del You-Ri Kang, So-Hyun Lee, Ni-Hsuan Lin, et al. GFAP_000107 - XY Liu
./. 1 2 c.469G>A r.(?) p.(Asp157Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42991449C>T 1 more item GFAP_000050 - Y Yang
./. 1 2i c.523-76G>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - g.42991267C>G 1 more item GFAP_000081 - Y Yang
?/. 1 3 c.611A>G r.(611a>g) p.His204Arg - - g.42991103T>C D Vázquez-Justes, J Peñalva-García, R López, R Mitjana, R Begue, C González-Mingot GFAP_000098 - XY Liu
./. 1 3 c.613G>A r.(?) p.(Glu205Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42991101C>T 1 more item GFAP_000049 - Y Yang
./. 1 3i c.619-12C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - g.42990810G>A 1 more item GFAP_000080 - Y Yang
./. 1 4 c.619G>A r.(?) p.(Glu207Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42990798C>T 1 more item GFAP_000048 - Y Yang
./. 1 4 c.619G>C r.(?) p.(Glu207Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42990798C>G 1 more item GFAP_000047 - Y Yang
./. 1 4 c.628G>A r.(?) p.(Glu210Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42990789C>T 1 more item GFAP_000046 - Y Yang
./., ?/. 2 4 c.667G>C, c.(667G>C) r.(?), r.(667g>c) p.(Glu223Gln), p.Glu223Gln VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42990750C>G Brockmann K1, Meins M, Taubert A, Trappe R, Grond M, Hanefeld F.(2003), 1 more item GFAP_000045 - Y Yang, XY Liu
./. 1 4 c.692T>A r.(?) p.(Leu231His) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42990725A>T Delnooz CC, Schelhaas JH, van de Warrenburg BP, de Graaf RJ, Salomons GS.(2008) GFAP_000044 - Y Yang
./. 1 4 c.704T>C r.(?) p.(Leu235Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42990713A>G 1 more item GFAP_000043 - Y Yang
?/. 4 4 c.(715C>T), c.715C>T r.(715c>u) p.Arg239Cys - - g.42990702G>A Megumi Tsuji, Mio Tanaka, Yukichi Tanaka, et al. , 3 more items GFAP_000005 - XY Liu
./., ?/. 3 4 c.716G>A, c.(716G>A) r.(?), r.(716g>a) p.(Arg239His), p.Arg239His VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42990701C>T Tanaka K1, Lee HU, Ikenaka K.(2007), Takafumi Sakakibara, Yukihiro Takahashi, Kazuyoshi Fukuda, et al., 1 more item GFAP_000008 - Y Yang, XY Liu
./. 1 4 c.716G>C r.(?) p.(Arg239Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42990701C>G Meins M1, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.(2002) GFAP_000042 - Y Yang
./., ?/. 3 4 c.716G>T, c.(716G>T) r.(?), r.(716g>u) p.(Arg239Leu), p.Arg239Leu VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42990701C>A Shiihara T1, Yoneda T, Mizuta I, Yoshida T, Nakagawa M, Shimizu N.(2011), 1 more item GFAP_000001 - Y Yang, XY Liu
./. 1 4 c.724T>G r.(?) p.(Tyr242Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42990693A>C 1 more item GFAP_000041 - Y Yang
./. 1 4 c.731C>T r.(?) p.(Ala244Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42990686G>A 1 more item GFAP_000040 - Y Yang
?/. 1 4 c.(739T>C) r.(739u>c) p.Ser247Pro - - g.42990678A>G Albee Messing, Rong Li, Sakkubai Naidu, J Paul Taylor, et al. GFAP_000087 - XY Liu
./. 1 4 c.758C>G r.(?) p.(Ala253Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42990659G>C 1 more item GFAP_000039 - Y Yang
./. 1 4 c.770A>G r.(?) p.(Tyr257Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42990647T>C Howard KL1, Hall DA, Moon M, Agarwal P, Newman E, Brenner M.(2008) GFAP_000038 - Y Yang
./. 1 4 c.772C>T r.(?) p.(Arg258Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42990645G>A Van Poppel K1, Broniscer A, Patay Z, Morris EB.(2009) GFAP_000037 - Y Yang
?/. 1 4 c.773G>C r.(?) p.Arg258Pro VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42990644C>G Brenner M1, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A.(2001) GFAP_000036 - Y Yang
./. 1 5 c.799G>C r.(?) p.(Ala267Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42989147C>G Hinttala R, Karttunen V, Karttunen A, Herva R, Uusimaa J, Remes AM.(2007) GFAP_000035 - Y Yang
./. 1 5 c.809G>C r.(?) p.(Arg270Pro) - - g.42989137C>G de Paiva AR et al. (2016) GFAP_000090 - XY Liu
./., ?/. 3 5 c.827G>T r.(?), r.(827g>u) p.(Arg276Leu), p.Arg276Leu VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42989119C>A Namekawa M1, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I.(2010), 2 more items GFAP_000003 - Y Yang, XY Liu
./. 1 5 c.835A>G r.(?) p.(Lys279Glu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42989111T>C 1 more item GFAP_000034 - Y Yang
./. 2 5 c.883G>A r.(?) p.(Asp295Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42989063C>T Isaacs A1, Baker M, Wavrant-De Vrièze F, Hutton M.(1998), Tonduti D et al. (2016) GFAP_000085 - Y Yang, XY Liu
./. 1 5i c.906+81A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.42988959T>C 1 more item GFAP_000079 - Y Yang
./. 1 5i c.907-100A>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - g.42988924T>G 1 more item GFAP_000078 - Y Yang
./. 1 6 c.934G>A r.(?) p.(Glu312Lys) - - g.42988797C>T Bonthius DJ et al. (2016) GFAP_000089 - XY Liu
./. 3 6 c.934G>T r.(?) p.(Glu312*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.42988797C>A Brenner M, Messing A.(2014), Brenner M et al.(2015), 1 more item GFAP_000010 - Y Yang, XY Liu
./. 1 6 c.988C>G r.(?) p.(Arg330Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42988743G>C 1 more item GFAP_000033 - Y Yang
./., ?/. 2 6 c.992T>C, c.(992T>C) r.(?), r.(992u>c) p.(Leu331Pro), p.Leu331Pro VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42988739A>G Shiihara T1, Kato M, Honma T, Ohtaki S, Sawaishi Y, Hayasaka K.(2002), 1 more item GFAP_000032 - Y Yang, XY Liu
./. 1 6 c.994G>A r.(?) p.(Glu332Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42988737C>T 1 more item GFAP_000031 - Y Yang
?/. 1 4 c.1044_1045insCACTTG r.(1044_1045inscacuug) p.Glu348_Tyr349insHisLeu - - g.42988686_42988687insCAAGTG Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al. GFAP_000102 - XY Liu
./. 1 6 c.1055T>C r.(?) p.(Leu352Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42988676A>G 1 more item GFAP_000030 - Y Yang
?/. 1 6 c.1058T>C r.(1058u>c) p.(Leu353Pro) - - g.42988673A>G Kengo Kora, Takeo Kato, Minako Ide, Takayuki Tanaka, Tomokatsu Yoshida GFAP_000097 - XY Liu
./. 1 6 c.1073C>T r.(?) p.(Ala358Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42988658G>A Dinopoulos A1, Gorospe JR, Egelhoff JC, Cecil KM, Nicolaidou P, Morehart P, DeGrauw T.(2006) GFAP_000029 - Y Yang
./. 2 6 c.1075C>G r.(?) p.(Leu359Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42988656G>C Ramesh K1, Sharma S, Kumar A, Salomons GS, van der Knaap MS, Gulati S.(2013), 1 more item GFAP_000011 - Y Yang
./. 1 6 c.1076T>C r.(?) p.(Leu359Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42988655A>G 1 more item GFAP_000028 - Y Yang
./. 1 6 c.1079A>T r.(?) p.(Asp360Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42988652T>A Ishigaki K1, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M.(2006) GFAP_000027 - Y Yang
./. 1 6 c.1086G>T r.(?) p.(Glu362Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42988645C>A 1 more item GFAP_000026 - Y Yang
./. 1 6 c.1090G>C r.(?) p.(Ala364Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42988641C>G 1 more item GFAP_000025 - Y Yang
./. 1 6 c.1091C>T r.(?) p.(Ala364Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42988640G>A 1 more item GFAP_000024 - Y Yang
./. 1 6 c.1096T>C r.(?) p.(Tyr366His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42988635A>G 1 more item GFAP_000023 - Y Yang
./. 1 6 c.1097A>G r.(?) p.(Tyr366Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42988634T>C 1 more item GFAP_000022 - Y Yang
?/. 1 6 c.1106T>C r.(1106u>c) p.(Leu369Pro) - - g.42988625A>G Oula Knuutinen, Maria Kousi, Maria Suo-Palosaari, et al. GFAP_000095 - XY Liu
./. 1 6 c.1112A>G r.(?) p.(Glu371Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42988619T>C Kawai M1, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K.(2006) GFAP_000021 - Y Yang
./. 1 6 c.1117G>A r.(?) p.(Glu373Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42988614C>T Matej R1, Dvoráková L, Mrázová L, Houst'ková H, Elleder M.(2008) GFAP_000019 - Y Yang
./. 1 6 c.1117G>C r.(?) p.(Glu373Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42988614C>G 1 more item GFAP_000020 - Y Yang
?/. 1 6 c.1119G>C r.(1119g>c) p.(Glu373Asp) - - g.42988612C>G Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al. GFAP_000103 - XY Liu
./. 1 6 c.1120G>C r.(?) p.(Glu374Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42988611C>G 1 more item GFAP_000018 - Y Yang
?/. 1 6 c.1121A>G r.(1121a>g) p.(Glu374Gly) - - g.42988610T>C Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al. GFAP_000104 - XY Liu
./. 1 6 c.1126C>T r.(?) p.(Arg376Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42988605G>A 1 more item GFAP_000017 - Y Yang
./. 1 6i c.1128-66C>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - g.42988092G>C 1 more item GFAP_000077 - Y Yang
./. 1 7 c.1154C>T r.(?) p.(Ser385Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.42988000G>A 1 more item GFAP_000084 - Y Yang
./. 1 7 c.1157A>T r.(?) p.(Asn386Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42987997T>A Cáceres-Marzal C1, Vaquerizo J, Galán E, Fernández S.(206) GFAP_000016 - Y Yang
?/. 1 4 c.1158C>A r.(1158c>a) p.Asn386Lys - - g.42987996G>T Sui-Yi Xu, Jian-Lin Liang, Hui-Juan Li, Rong-Juan Zhao, Chang-Xin Li GFAP_000106 - XY Liu
./. 1 8 c.1177A>C r.(?) p.(Ser393Arg) - - g.42985512T>G Iwasaki Y et al.(2015) GFAP_000088 - XY Liu
./. 1 8 c.1178G>T r.(?) p.(Ser393Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42985511C>A Salmaggi A, Botturi A, Lamperti E, Grisoli M, Fischetto R, Ceccherini I, Caroli F, Boiardi A.(2007) GFAP_000015 - Y Yang
./. 1 8 c.1193C>A r.(?) p.(Ser398Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42985496G>T 1 more item GFAP_000014 - Y Yang
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