| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2670 |
Name | GFAP |
Synonymous | -;glial fibrillary acidic protein;GFAP;glial fibrillary acidic protein |
Definition | - |
Position | 17q21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for GFAP | ||
PCGP somatic mutation [Top] | ||
There is no record for GFAP | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1127+1G>C; p.?; |
thyroid | carcinoma; medullary_carcinoma |
c.772C>T; p.R258C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.89G>A; p.R30H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.685C>T; p.P229S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.905C>T; p.T302M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.841G>A; p.E281K; |
oesophagus | carcinoma; adenocarcinoma |
c.407G>A; p.R136Q; |
liver | carcinoma; hepatocellular_carcinoma |
c.1258-8C>T; p.?; |
liver | carcinoma |
c.403G>T; p.A135S; |
lung | carcinoma; adenocarcinoma |
c.647C>A; p.A216D; |
lung | carcinoma; adenocarcinoma |
c.973C>T; p.Q325*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.613G>A; p.E205K; |
pancreas | NS |
c.1042G>T; p.E348*; |
liver | carcinoma |
c.377G>A; p.R126Q; |
ovary | carcinoma; serous_carcinoma |
c.588G>A; p.E196E; 17:40346652-40346652 |
ovary | carcinoma; serous_carcinoma |
c.990G>A; p.R330R; |
ovary | carcinoma; serous_carcinoma |
c.825C>G; p.L275L; |
lung | carcinoma; adenocarcinoma |
c.1083C>A; p.I361I; |
lung | carcinoma; adenocarcinoma |
c.315G>C; p.R105R; |
lung | carcinoma; squamous_cell_carcinoma |
c.316G>T; p.A106S; |
lung | carcinoma; squamous_cell_carcinoma |
c.393C>G; p.T131T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.70G>T; p.G24C; |
lung | carcinoma; adenocarcinoma |
c.916C>T; p.L306L; |
lung | carcinoma; adenocarcinoma |
c.720G>A; p.T240T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.588G>A; p.E196E; 17:40346652-40346652 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1236C>T; p.T412T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.776C>T; p.S259F; |
breast | carcinoma |
c.587A>G; p.E196G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.760G>A; p.E254K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1206C>A; p.G402G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1245G>A; p.M415I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.697G>A; p.A233T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1144C>T; p.Q382*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.697G>A; p.A233T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1183G>A; p.D395N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.760G>A; p.E254K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.982C>T; p.L328L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.697G>A; p.A233T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1246C>T; p.R416W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1193C>G; p.S398C; |
urinary_tract; bladder | carcinoma |
c.106delC; p.R36fs*38; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.14G>A; p.R5H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.131C>A; p.P44H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.750G>A; p.M250I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1134C>A; p.T378T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.587A>T; p.E196V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1029C>T; p.A343A; |
breast | carcinoma |
c.730G>A; p.A244T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1169G>C; p.R390P; |
urinary_tract; bladder | carcinoma |
c.1252G>A; p.G418R; |
skin | malignant_melanoma |
c.1288G>A; p.D430N; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.113_114CC>TT; p.S38F; |
skin; face | carcinoma; squamous_cell_carcinoma |