Entrez Gene

Basic Information
Gene ID	174
Name	AFP
Synonymous	alpha-fetoprotein;AFP;alpha-fetoprotein
Definition	alpha-1-fetoprotein\|alpha-fetoglobulin
Position	4q13.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.101C>A; p.S34Y; 4:73437175-73437175	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1427C>T; p.A476V; 4:73450752-73450752	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1111C>A; p.L371I; 4:73449387-73449387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.545C>G; p.A182G; 4:73442358-73442358	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1192-1G>A; p.?; 4:73450035-73450035	breast	carcinoma	Unknown
c.545C>G; p.A182G; 4:73442358-73442358	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1344G>A; p.M448I; 4:73450669-73450669	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.68G>T; p.R23I; 4:73436330-73436330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.535C>A; p.L179I; 4:73442348-73442348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1012G>A; p.D338N; 4:73447630-73447630	skin	malignant_melanoma	Substitution - Missense
c.1823G>T; p.G608V; 4:73455273-73455273	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1765G>A; p.E589K; 4:73453877-73453877	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1061T>G; p.F354C; 4:73449337-73449337	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1759G>A; p.E587K; 4:73453871-73453871	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1016T>G; p.F339C; 4:73447634-73447634	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1016T>G; p.F339C; 4:73447634-73447634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.156C>T; p.A52A; 4:73438192-73438192	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1566C>T; p.V522V; 4:73452538-73452538	skin	malignant_melanoma	Substitution - coding silent
c.770A>G; p.K257R; 4:73445049-73445049	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1037delA; p.N348fs*22; 4:73447655-73447655	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.855G>A; p.M285I; 4:73447473-73447473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.398C>T; p.P133L; 4:73440729-73440729	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1192G>A; p.E398K; 4:73450036-73450036	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.681G>A; p.M227I; 4:73443412-73443412	skin	malignant_melanoma	Substitution - Missense
c.1035G>A; p.G345G; 4:73447653-73447653	skin	malignant_melanoma	Substitution - coding silent
c.661C>T; p.Q221*; 4:73443392-73443392	skin	malignant_melanoma	Substitution - Nonsense
c.1294C>G; p.L432V; 4:73450619-73450619	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.793G>T; p.V265L; 4:73445072-73445072	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1260G>T; p.Q420H; 4:73450104-73450104	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.368A>C; p.N123T; 4:73440699-73440699	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1447C>T; p.H483Y; 4:73452419-73452419	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.17C>T; p.S6L; 4:73436279-73436279	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.671G>A; p.C224Y; 4:73443402-73443402	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.704T>G; p.F235C; 4:73443435-73443435	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1578C>A; p.F526L; 4:73452550-73452550	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.628A>G; p.T210A; 4:73443359-73443359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1070A>G; p.E357G; 4:73449346-73449346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1346C>T; p.A449V; 4:73450671-73450671	central_nervous_system; brain	glioma	Substitution - Missense
c.312T>G; p.I104M; 4:73440643-73440643	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.424C>T; p.P142S; 4:73440755-73440755	skin	malignant_melanoma	Substitution - Missense
c.1036G>A; p.E346K; 4:73447654-73447654	skin	malignant_melanoma	Substitution - Missense
c.764T>C; p.I255T; 4:73445043-73445043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.545C>T; p.A182V; 4:73442358-73442358	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.543G>A; p.W181*; 4:73442356-73442356	large_intestine; colon	carcinoma	Substitution - Nonsense
c.148delT; p.F51fs*13; 4:73438184-73438184	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.140C>T; p.A47V; 4:73438176-73438176	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.667G>A; p.A223T; 4:73443398-73443398	liver	carcinoma	Substitution - Missense
c.647G>T; p.S216I; 4:73443378-73443378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.221T>C; p.I74T; 4:73438257-73438257	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1118T>C; p.V373A; 4:73449394-73449394	skin	malignant_melanoma	Substitution - Missense
c.725A>G; p.K242R; 4:73445004-73445004	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 4:73436311-73436311	skin	malignant_melanoma	Substitution - Missense
c.989T>A; p.L330Q; 4:73447607-73447607	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1593C>A; p.F531L; 4:73452565-73452565	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.697C>T; p.R233*; 4:73443428-73443428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1542C>T; p.S514S; 4:73452514-73452514	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.965A>C; p.K322T; 4:73447583-73447583	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.968C>T; p.P323L; 4:73447586-73447586	skin	malignant_melanoma	Substitution - Missense
c.722C>A; p.T241N; 4:73445001-73445001	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.765C>T; p.I255I; 4:73445044-73445044	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1494C>T; p.G498G; 4:73452466-73452466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.148T>G; p.F50V; 4:73438184-73438184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1631C>T; p.A544V; 4:73452603-73452603	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1487G>C; p.G496A; 4:73452459-73452459	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1082G>A; p.R361K; 4:73449358-73449358	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.1297G>A; p.V433I; 4:73450622-73450622	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.53C>G; p.S18C; 4:73436315-73436315	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.194A>T; p.K65I; 4:73438230-73438230	skin	malignant_melanoma	Substitution - Missense
c.1567C>T; p.P523S; 4:73452539-73452539	skin; trunk	malignant_melanoma	Substitution - Missense
c.950C>T; p.A317V; 4:73447568-73447568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.318G>T; p.E106D; 4:73440649-73440649	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.418C>G; p.Q140E; 4:73440749-73440749	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1289C>T; p.A430V; 4:73450133-73450133	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1326G>A; p.L442L; 4:73450651-73450651	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1289C>T; p.A430V; 4:73450133-73450133	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.228A>C; p.K76N; 4:73438264-73438264	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.228A>C; p.K76N; 4:73438264-73438264	central_nervous_system; brain	glioma	Substitution - Missense
c.929G>A; p.R310H; 4:73447547-73447547	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.551G>A; p.R184H; 4:73442364-73442364	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.550C>T; p.R184C; 4:73442363-73442363	skin	malignant_melanoma	Substitution - Missense
c.997delT; p.L334fs*1; 4:73447615-73447615	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1466A>G; p.E489G; 4:73452438-73452438	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.598G>A; p.E200K; 4:73442411-73442411	urinary_tract; bladder	carcinoma	Substitution - Missense
c.598G>A; p.E200K; 4:73442411-73442411	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1169C>A; p.P390H; 4:73449445-73449445	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.404C>T; p.S135L; 4:73440735-73440735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.538C>A; p.L180I; 4:73442351-73442351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.931G>T; p.G311C; 4:73447549-73447549	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1747T>A; p.C583S; 4:73453859-73453859	breast	carcinoma	Substitution - Missense
c.279C>T; p.A93A; 4:73440610-73440610	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.928C>T; p.R310C; 4:73447546-73447546	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.64C>T; p.H22Y; 4:73436326-73436326	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1465G>A; p.E489K; 4:73452437-73452437	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.732T>C; p.S244S; 4:73445011-73445011	skin	malignant_melanoma	Substitution - coding silent
c.669A>G; p.A223A; 4:73443400-73443400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.980C>T; p.S327F; 4:73447598-73447598	skin	malignant_melanoma	Substitution - Missense
c.1391T>C; p.L464P; 4:73450716-73450716	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.677T>C; p.V226A; 4:73443408-73443408	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.677T>C; p.V226A; 4:73443408-73443408	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1036_1037insA; p.N348fs*10; 4:73447654-73447655	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1443C>T; p.I481I; 4:73452415-73452415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.178T>G; p.Y60D; 4:73438214-73438214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.995G>C; p.R332T; 4:73447613-73447613	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1088C>T; p.P363L; 4:73449364-73449364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.584C>T; p.A195V; 4:73442397-73442397	skin	malignant_melanoma	Substitution - Missense
c.746A>G; p.K249R; 4:73445025-73445025	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1621C>T; p.Q541*; 4:73452593-73452593	skin	malignant_melanoma	Substitution - Nonsense
c.82A>T; p.I28L; 4:73436344-73436344	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1654T>C; p.F552L; 4:73453766-73453766	skin	malignant_melanoma	Substitution - Missense
c.893A>T; p.K298I; 4:73447511-73447511	skin	malignant_melanoma	Substitution - Missense
c.1488T>C; p.G496G; 4:73452460-73452460	thyroid	other; neoplasm	Substitution - coding silent
c.744C>T; p.T248T; 4:73445023-73445023	skin	malignant_melanoma	Substitution - coding silent
c.409C>T; p.P137S; 4:73440740-73440740	skin	malignant_melanoma	Substitution - Missense
c.1010G>T; p.R337I; 4:73447628-73447628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1022A>G; p.Q341R; 4:73447640-73447640	lung	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]