Entrez Gene

Basic Information
Gene ID	2670
Name	GFAP
Synonymous	glial fibrillary acidic protein;GFAP;glial fibrillary acidic protein
Definition	-
Position	17q21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1042G>T; p.E348*; 17:44911321-44911321	liver	carcinoma	Substitution - Nonsense
c.825C>G; p.L275L; 17:44911753-44911753	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1127+1G>C; p.?; 17:44911235-44911235	thyroid	carcinoma; medullary_carcinoma	Unknown
c.1236C>T; p.T412T; 17:44908085-44908085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.403G>T; p.A135S; 17:44915084-44915084	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.772C>T; p.R258C; 17:44913277-44913277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.196C>T; p.R66W; 17:44915291-44915291	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.850G>T; p.D284Y; 17:44911728-44911728	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.113_114CC>TT; p.S38F; 17:44915373-44915374	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.697G>A; p.A233T; 17:44913352-44913352	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.253G>A; p.E85K; 17:44915234-44915234	skin	malignant_melanoma	Substitution - Missense
c.697G>A; p.A233T; 17:44913352-44913352	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.697G>A; p.A233T; 17:44913352-44913352	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.107G>A; p.R36H; 17:44915380-44915380	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.107G>A; p.R36H; 17:44915380-44915380	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1258-8C>T; p.?; 17:44907396-44907396	liver	carcinoma	Unknown
c.1258-8C>T; p.?; 17:44907396-44907396	liver	carcinoma	Unknown
c.407G>A; p.R136Q; 17:44915080-44915080	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.408G>A; p.R136R; 17:44915079-44915079	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1115G>A; p.G372D; 17:44911248-44911248	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.587A>T; p.E196V; 17:44913759-44913759	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1115G>A; p.G372D; 17:44911248-44911248	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.720G>A; p.T240T; 17:44913329-44913329	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.574T>C; p.S192P; 17:44913772-44913772	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.620A>C; p.E207A; 17:44913429-44913429	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.620A>C; p.E207A; 17:44913429-44913429	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1224C>T; p.I408I; 17:44908097-44908097	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1224C>T; p.I408I; 17:44908097-44908097	breast	carcinoma	Substitution - coding silent
c.730G>A; p.A244T; 17:44913319-44913319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1193C>G; p.S398C; 17:44908128-44908128	urinary_tract; bladder	carcinoma	Substitution - Missense
c.106delC; p.R36fs*38; 17:44915381-44915381	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.393C>G; p.T131T; 17:44915094-44915094	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.338C>T; p.A113V; 17:44915149-44915149	thyroid	other; neoplasm	Substitution - Missense
c.664G>A; p.V222M; 17:44913385-44913385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.377G>A; p.R126Q; 17:44915110-44915110	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1252G>A; p.G418R; 17:44908069-44908069	skin	malignant_melanoma	Substitution - Missense
c.268C>T; p.L90L; 17:44915219-44915219	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.595T>G; p.F199V; 17:44913751-44913751	skin	malignant_melanoma	Substitution - Missense
c.1134C>A; p.T378T; 17:44910652-44910652	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.114C>T; p.S38S; 17:44915373-44915373	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.114C>T; p.S38S; 17:44915373-44915373	skin	malignant_melanoma	Substitution - coding silent
c.776C>T; p.S259F; 17:44913273-44913273	breast	carcinoma	Substitution - Missense
c.776C>T; p.S259F; 17:44913273-44913273	skin	malignant_melanoma	Substitution - Missense
c.423G>A; p.R141R; 17:44915064-44915064	skin	malignant_melanoma	Substitution - coding silent
c.288G>A; p.A96A; 17:44915199-44915199	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.750G>A; p.M250I; 17:44913299-44913299	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.905C>T; p.T302M; 17:44911673-44911673	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.815C>T; p.A272V; 17:44911763-44911763	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.760G>A; p.E254K; 17:44913289-44913289	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.316G>T; p.A106S; 17:44915171-44915171	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1183G>A; p.D395N; 17:44908138-44908138	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.760G>A; p.E254K; 17:44913289-44913289	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.760G>A; p.E254K; 17:44913289-44913289	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.103A>C; p.T35P; 17:44915384-44915384	thyroid	other; neoplasm	Substitution - Missense
c.996G>A; p.E332E; 17:44911367-44911367	skin	malignant_melanoma	Substitution - coding silent
c.841G>A; p.E281K; 17:44911737-44911737	skin	malignant_melanoma	Substitution - Missense
c.352G>T; p.A118S; 17:44915135-44915135	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.647C>A; p.A216D; 17:44913402-44913402	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.841G>A; p.E281K; 17:44911737-44911737	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.679G>A; p.A227T; 17:44913370-44913370	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.990G>A; p.R330R; 17:44911373-44911373	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.498G>A; p.E166E; 17:44914052-44914052	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.581A>G; p.E194G; 17:44913765-44913765	breast	carcinoma	Substitution - Missense
c.1169G>C; p.R390P; 17:44910617-44910617	urinary_tract; bladder	carcinoma	Substitution - Missense
c.362G>T; p.R121L; 17:44915125-44915125	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.916C>T; p.L306L; 17:44911447-44911447	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.342C>T; p.D114D; 17:44915145-44915145	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1074C>T; p.A358A; 17:44911289-44911289	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.660C>T; p.V220V; 17:44913389-44913389	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1206C>A; p.G402G; 17:44908115-44908115	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.722A>C; p.Q241P; 17:44913327-44913327	breast	carcinoma	Substitution - Missense
c.482T>C; p.L161P; 17:44914068-44914068	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.482T>C; p.L161P; 17:44914068-44914068	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.972T>G; p.Y324*; 17:44911391-44911391	skin	malignant_melanoma	Substitution - Nonsense
c.619-9C>G; p.?; 17:44913439-44913439	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.915C>T; p.S305S; 17:44911448-44911448	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.262C>T; p.R88C; 17:44915225-44915225	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.131C>A; p.P44H; 17:44915356-44915356	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1245G>A; p.M415I; 17:44908076-44908076	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1083C>A; p.I361I; 17:44911280-44911280	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.70G>T; p.G24C; 17:44915417-44915417	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.613G>A; p.E205K; 17:44913733-44913733	pancreas	NS	Substitution - Missense
c.287C>T; p.A96V; 17:44915200-44915200	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1029C>T; p.A343A; 17:44911334-44911334	breast	carcinoma	Substitution - coding silent
c.162G>A; p.L54L; 17:44915325-44915325	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.89G>A; p.R30H; 17:44915398-44915398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.113C>T; p.S38F; 17:44915374-44915374	skin	malignant_melanoma	Substitution - Missense
c.315G>C; p.R105R; 17:44915172-44915172	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.982C>T; p.L328L; 17:44911381-44911381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1246C>T; p.R416W; 17:44908075-44908075	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.973C>T; p.Q325*; 17:44911390-44911390	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.1168C>T; p.R390*; 17:44910618-44910618	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.588G>A; p.E196E; 17:44913758-44913758	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.190G>A; p.E64K; 17:44915297-44915297	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.588G>A; p.E196E; 17:44913758-44913758	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.620A>G; p.E207G; 17:44913429-44913429	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.620A>G; p.E207G; 17:44913429-44913429	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.14G>A; p.R5H; 17:44915473-44915473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.685C>T; p.P229S; 17:44913364-44913364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.111C>G; p.L37L; 17:44915376-44915376	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.88C>T; p.R30C; 17:44915399-44915399	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.88C>T; p.R30C; 17:44915399-44915399	skin	malignant_melanoma	Substitution - Missense
c.351G>C; p.Q117H; 17:44915136-44915136	kidney	other; neoplasm	Substitution - Missense
c.55G>A; p.E19K; 17:44915432-44915432	skin	malignant_melanoma	Substitution - Missense
c.1144C>T; p.Q382*; 17:44910642-44910642	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.597C>T; p.F199F; 17:44913749-44913749	skin	malignant_melanoma	Substitution - coding silent
c.790C>A; p.L264M; 17:44911788-44911788	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.856C>T; p.R286W; 17:44911722-44911722	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.856C>T; p.R286W; 17:44911722-44911722	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1288G>A; p.D430N; 17:44907358-44907358	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.587A>G; p.E196G; 17:44913759-44913759	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.539C>A; p.T180N; 17:44913807-44913807	central_nervous_system; brain	glioma	Substitution - Missense

COSMIC somatic mutation [Top]