Effect
|
Reported
|
Exon
|
DNA 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 |