All variants in the GFAP gene

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
?/. 1 c.53G>T r.(53g>u) p.Gly18Val - - g.42992802C>A Carlos Casasnovas, Edgard Verdura, Valentina Vélez, et al. GFAP_000096 - XY Liu
?/. 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 c.187A>C r.(?) p.(Lys63Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992668T>G Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005) GFAP_000076 - Y Yang
./. 1 c.197G>A r.(?) p.(Arg66Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42992658C>T Hida A, Ishiura H, Arai N, Fukuoka H, Hasuo K, Goto J, Uesaka Y, Tsuji S, Takeuchi S.(2012) GFAP_000004 - Y Yang
?/. 1 c.197G>A r.(197g>a) p.Arg66Gln - - g.42992658C>T Mu-Hui Fu, Yung-Yee Chang, Ni-Hsuan Lin, et al. GFAP_000004 - XY Liu
+?/. 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 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 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 Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007) GFAP_000074 - Y Yang
./. 1 c.218T>A r.(?) p.(Met73Lys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992637A>T Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007) GFAP_000071 - Y Yang
?/. 1 c.218T>A r.(218u>a) p.Met73Lys - - g.42992637A>T Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al. GFAP_000071 - XY Liu
./. 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 Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005) GFAP_000072 - Y Yang
./. 1 c.218T>G r.(?) p.(Met73Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992637A>C Gorospe JR1, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.(2002) GFAP_000073 - Y Yang
?/. 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 c.219G>T r.(219g>u) p.(Met73Ile) - - g.42992636C>A Eri Hayano, Mikito Shimizu, Kousuke Baba, et al. GFAP_000099 - XY Liu
./. 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 c.226C>G r.(?) p.(Leu76Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992629G>C Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005) GFAP_000068 - Y Yang
./. 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 Rodriguez D1, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O.(2001) GFAP_000069 - Y Yang
./. 1 c.229A>T r.(?) p.(Asn77Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992626T>A Rodriguez D1, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O.(2001) GFAP_000067 - Y Yang
./. 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 Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005) GFAP_000066 - Y Yang
./. 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) GFAP_000007 - Y Yang
./. 1 c.232G>A r.(?) p.(Asp78Asn) - - g.42992623C>T Tonduti D et al. (2016) GFAP_000007 - XY Liu
./. 1 c.234C>A r.(?) p.(Asp78Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992621G>T Stumpf E1, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P.(2003) GFAP_000065 - Y Yang
./. 1 c.234C>A r.(?) p.(Asp78Glu) - - g.42992621G>T Tonduti D et al. (2016) GFAP_000065 - XY Liu
?/. 1 c.(235C>T) r.(235c>u) p.Arg79Cys - - g.42992620G>A Cyril Mignot, Isabelle Desguerre, Lydie Burglen, et al. GFAP_000064 - XY Liu
?/. 1 c.(235C>T) r.(235c>u) p.Arg79Cys - - g.42992620G>A Roberta Biancheri, Andrea Rossi, Isabella Ceccherini, et al. GFAP_000064 - XY Liu
./. 1 c.235C>G r.(?) p.(Arg79Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992620G>C Gorospe JR1, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.(2002) GFAP_000063 - Y Yang
./. 1 c.235C>T r.(?) 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) GFAP_000064 - Y Yang
?/. 1 c.235C>T r.(235c>u) p.Arg79Cys - - g.42992620G>A M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing GFAP_000064 - XY Liu
?/. 1 c.235C>T r.(235c>u) p.Arg79Cys - - g.42992620G>A Naohide Shiroma, Naomi Kanazawa, Zenichiro Kato, et al. GFAP_000064 - XY Liu
?/. 1 c.(236G>A) r.(236g>a) p.Arg79His - - g.42992619C>T Naoko Asahina, Takayuki Okamoto, Akira Sudo, Naomi Kanazawa, Seiichi Tsujino, Shinji Saitoh GFAP_000009 - XY Liu
?/. 1 c.(236G>A) r.(236g>a) p.Arg79His - - g.42992619C>T Maria Teresa Dotti, Rosaria Buccoliero, Andrew Lee, J Raphael Gorospe, et al. GFAP_000009 - XY Liu
?/. 1 c.(236G>T) r.(236g>u) p.Arg79Leu - - g.42992619C>A Naohide Shiroma, Naomi Kanazawa, Zenichiro Kato, et al. GFAP_000061 - XY Liu
?/. 1 c.236G>A r.(?) p.Arg79His - - g.42992619C>A Meins M1, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.(2002) GFAP_000061 - Y Yang
./. 1 c.236G>A r.(?) p.(Arg79His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42992619C>T Ashrafi MR1, Tavasoli A2, Aryani O3, Alizadeh H4, Houshmand M5.(2013) GFAP_000009 - Y Yang
?/. 1 c.236G>A r.(236g>a) p.Arg79His - - g.42992619C>T M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing GFAP_000009 - XY Liu
?/. 1 c.236G>A r.(236g>a) p.Arg79His - - g.42992619C>T Yumi Matsuyama, Marie Satake, Ryotaro Kamei, Tomokatsu Yoshida GFAP_000009 - XY Liu
./. 1 c.236G>C r.(?) p.(Arg79Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992619C>G Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007) GFAP_000062 - Y Yang
?/. 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 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 c.256_259delinsGAGT r.(?) p.(Lys86_Val87delinsGluPhe) VariO:0143 DNA indel VariO:0029 sequence retaining amino acid indel g.42992596_42992599delinsACTC Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007) GFAP_000059 - Y Yang
?/. 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 c.259G>C r.(?) p.(Val87Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992596C>G Suzuki H1, Yoshida T, Kitada M, Ichihashi J, Sasayama H, Nishikawa Y, Mistui Y, Nakagawa M, Kusunoki S.(2012) GFAP_000002 - Y Yang
?/. 1 c.(262C>T) r.(262c>u) p.Arg88Cys - - g.42992593G>A Y Nobuhara, K Nakahara, I Higuchi, T Yoshida, et al. GFAP_000057 - XY Liu
?/. 1 c.(262C>T) r.(262c>u) p.Arg88Cys - - g.42992593G>A Ye Wu, Qiang Gu, Jingmin Wang, Yanling Yang, Xiru Wu, Yuwu Jiang GFAP_000057 - XY Liu
./. 1 c.262C>A r.(?) p.(Arg88Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42992593G>T Rodriguez D1, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O.(2001) GFAP_000056 - Y Yang
./. 1 c.262C>T r.(?) p.(Arg88Cys) - - g.42992593G>A Tonduti D et al. (2016) GFAP_000057 - XY Liu
?/. 1 c.262C>T r.(262c>u) p.Arg88Cys - - g.42992593G>A Safoura Zardadi, Ehsan Razmara, Maryam Rasoulinezhad, et al. GFAP_000057 - XY Liu
./. 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 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 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 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 Kaneko H, Hirose M, Katada S, Takahashi T, Naruse S, Tsuchiya M, Yoshida T, Nakagawa M, Onodera O, Nishizawa M, Ikeuchi T.(2009) GFAP_000052 - Y Yang
?/. 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 c.376_381dup r.(?) p.(Arg126_Leu127dup) VariO:0142 DNA insertion VariO:0020 sequence retaining amino acid insertion g.42992474_42992479dup Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007) GFAP_000083 - Y Yang
./. 1 c.382G>A r.(?) p.(Asp128Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42992473C>T Farina L1, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M.(2008) GFAP_000051 - Y Yang
./. 1 c.382G>A r.(?) p.(Asp128Asn) - - g.42992473C>T Chang KE et al. (2015) GFAP_000051 - XY Liu
?/. 1 c.382G>A r.(382g>a) p.Asp128Asn - - g.42992473C>T Juan José Cabrera-Galván, María Soledad Martínez-Martin, Daniel Déniz-García, Eduardo Araujo-Ruano, María Del Mar Travieso-Aja GFAP_000051 - XY Liu
?/. 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
./. 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 Pareyson D1, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M.(2008) GFAP_000050 - Y Yang
./. 2i c.523-76G>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - g.42991267C>G Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007) GFAP_000081 - Y Yang
?/. 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
./. 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 Farina L1, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M.(2008) GFAP_000049 - Y Yang
./. 3i c.619-12C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - g.42990810G>A Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007) GFAP_000080 - Y Yang
./. 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 Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005) GFAP_000048 - Y Yang
./. 4 c.619G>C r.(?) p.(Glu207Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42990798C>G Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005) GFAP_000047 - Y Yang
./. 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 Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005) GFAP_000046 - Y Yang
?/. 4 c.(667G>C) r.(667g>c) p.Glu223Gln - - g.42990750C>G Maria Teresa Dotti, Rosaria Buccoliero, Andrew Lee, J Raphael Gorospe, et al. GFAP_000045 - XY Liu
./. 4 c.667G>C r.(?) 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) GFAP_000045 - Y Yang
./. 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
./. 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 Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005) GFAP_000043 - Y Yang
?/. 4 c.(715C>T) r.(715c>u) p.Arg239Cys - - g.42990702G>A Megumi Tsuji, Mio Tanaka, Yukichi Tanaka, et al. GFAP_000005 - XY Liu
?/. 4 c.715C>T r.(715c>u) p.Arg239Cys - - g.42990702G>A M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing GFAP_000005 - XY Liu
?/. 4 c.715C>T r.(715c>u) p.Arg239Cys - - g.42990702G>A Naohide Shiroma, Naomi Kanazawa, Zenichiro Kato, et al. GFAP_000005 - XY Liu
?/. 4 c.715C>T r.(715c>u) p.Arg239Cys - - g.42990702G>A Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al. GFAP_000005 - XY Liu
?/. 4 c.(716G>A) r.(716g>a) p.Arg239His - - g.42990701C>T Takafumi Sakakibara, Yukihiro Takahashi, Kazuyoshi Fukuda, et al. GFAP_000008 - XY Liu
?/. 4 c.(716G>T) r.(716g>u) p.Arg239Leu - - g.42990701C>A Jung Mu Lee, Ae Suk Kim, Sun Ju Lee, et al. GFAP_000001 - XY Liu
./. 4 c.716G>A r.(?) 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) GFAP_000008 - Y Yang
./. 4 c.716G>A r.(?) p.(Arg239His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.42990701C>T Ashrafi MR1, Tavasoli A2, Aryani O3, Alizadeh H4, Houshmand M5.(2013) GFAP_000008 - Y Yang
./. 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
./. 4 c.716G>T r.(?) 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) GFAP_000001 - Y Yang
./. 4 c.716G>T r.(?) 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) GFAP_000001 - Y Yang
./. 4 c.724T>G r.(?) p.(Tyr242Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42990693A>C Gorospe JR1, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.(2002) GFAP_000041 - Y Yang
./. 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 Aoki Y1, Haginoya K, Munakata M, Yokoyama H, Nishio T, Togashi N, Ito T, Suzuki Y, Kure S, Iinuma K, Brenner M, Matsubara Y.(2001) GFAP_000040 - Y Yang
?/. 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
./. 4 c.758C>G r.(?) p.(Ala253Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42990659G>C Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005) GFAP_000039 - Y Yang
./. 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
./. 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
?/. 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
./. 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
./. 5 c.809G>C r.(?) p.(Arg270Pro) - - g.42989137C>G de Paiva AR et al. (2016) GFAP_000090 - XY Liu
./. 5 c.827G>T r.(?) 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) GFAP_000003 - Y Yang
./. 5 c.827G>T r.(?) p.(Arg276Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.42989119C>A Namekawa M1, Takiyama Y, Honda J, Sakoe K, Naoi T, Shimazaki H, Yamagata T, Momoi MY, Nakano I.(2012) GFAP_000003 - Y Yang
?/. 5 c.827G>T r.(827g>u) p.Arg276Leu - - g.42989119C>A Michito Namekawa, Yoshihisa Takiyama, Yoko Aoki, et al. GFAP_000003 - XY Liu
./. 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 Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005) GFAP_000034 - Y Yang
./. 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) GFAP_000085 - Y Yang
./. 5 c.883G>A r.(?) p.(Asp295Asn) - - g.42989063C>T Tonduti D et al. (2016) GFAP_000085 - XY Liu
./. 5i c.906+81A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.42988959T>C Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007) GFAP_000079 - Y Yang
./. 5i c.907-100A>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - g.42988924T>G Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007) GFAP_000078 - Y Yang
./. 6 c.934G>A r.(?) p.(Glu312Lys) - - g.42988797C>T Bonthius DJ et al. (2016) GFAP_000089 - XY Liu
./. 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) GFAP_000010 - Y Yang
./. 6 c.934G>T r.(?) p.(Glu312*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.42988797C>A Nam TS1, Kim JH2, Chang CH3, Yoon W4, Jung YS5, Kang SY6, Shin BA7, Perng MD3, Choi SY8, Kim MK1.(2015) GFAP_000010 - Y Yang
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