Entrez Gene

Basic Information
Gene ID	1576
Name	CYP3A4
Synonymous	cytochrome P450, family 3, subfamily A, polypeptide 4;CYP3A4;cytochrome P450, family 3, subfamily A, polypeptide 4
Definition	1,8-cineole 2-exo-monooxygenase\|P450-III, steroid inducible\|albendazole monooxygenase\|albendazole sulfoxidase\|cytochrome P450 3A3\|cytochrome P450 3A4\|cytochrome P450 HLp\|cytochrome P450 NF-25\|cytochrome P450, subfamily IIIA (niphedipine oxidase), polypept
Position	7q21.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.604C>T; p.P202S; 7:99768420-99768420	skin	malignant_melanoma	Substitution - Missense
c.1319G>A; p.R440K; 7:99760916-99760916	urinary_tract; bladder	carcinoma	Substitution - Missense
c.206G>A; p.G69E; 7:99778040-99778040	skin	malignant_melanoma	Substitution - Missense
c.433-3T>C; p.?; 7:99769859-99769859	liver	carcinoma	Unknown
c.381G>A; p.K127K; 7:99770173-99770173	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.433-3T>C; p.?; 7:99769859-99769859	liver	carcinoma	Unknown
c.516G>A; p.L172L; 7:99769773-99769773	breast	carcinoma	Substitution - coding silent
c.166-2A>G; p.?; 7:99778082-99778082	skin	malignant_melanoma	Unknown
c.801C>T; p.H267H; 7:99766441-99766441	skin	malignant_melanoma	Substitution - coding silent
c.1138G>T; p.D380Y; 7:99762156-99762156	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1401T>G; p.P467P; 7:99760834-99760834	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.461A>G; p.D154G; 7:99769828-99769828	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1290C>A; p.Y430*; 7:99760945-99760945	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.461A>G; p.D154G; 7:99769828-99769828	stomach	adenocarcinoma	Substitution - Missense
c.1285C>T; p.P429S; 7:99760950-99760950	pleura	pulmonary_blastoma	Substitution - Missense
c.364G>A; p.E122K; 7:99770190-99770190	skin	malignant_melanoma	Substitution - Missense
c.76G>A; p.G26R; 7:99780081-99780081	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.837G>T; p.Q279H; 7:99766405-99766405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1371C>A; p.I457I; 7:99760864-99760864	breast	carcinoma	Substitution - coding silent
c.1149C>T; p.I383I; 7:99762145-99762145	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.611T>G; p.V204G; 7:99768413-99768413	breast	carcinoma	Substitution - Missense
c.721T>C; p.F241L; 7:99767208-99767208	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.335G>T; p.G112V; 7:99770219-99770219	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.958G>A; p.E320K; 7:99763923-99763923	skin	malignant_melanoma	Substitution - Missense
c.60G>A; p.V20V; 7:99784022-99784022	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.657C>A; p.F219L; 7:99768367-99768367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.28G>A; p.E10K; 7:99784054-99784054	skin	malignant_melanoma	Substitution - Missense
c.543G>A; p.M181I; 7:99768481-99768481	skin	malignant_melanoma	Substitution - Missense
c.942C>A; p.L314L; 7:99763939-99763939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.624G>C; p.K208N; 7:99768400-99768400	breast	carcinoma	Substitution - Missense
c.453G>A; p.Q151Q; 7:99769836-99769836	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.299C>A; p.S100Y; 7:99772609-99772609	liver	carcinoma	Substitution - Missense
c.874G>A; p.D292N; 7:99764007-99764007	skin	malignant_melanoma	Substitution - Missense
c.1503T>C; p.S501S; 7:99758142-99758142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1354A>G; p.M452V; 7:99760881-99760881	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1462_1463insA; p.P488fs*7; 7:99758182-99758183	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1234G>C; p.E412Q; 7:99762060-99762060	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.561A>G; p.T187T; 7:99768463-99768463	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1266_1268delGAA; p.K422delK; 7:99760967-99760969	breast	carcinoma	Deletion - In frame
c.523G>A; p.V175I; 7:99768501-99768501	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1207C>T; p.R403C; 7:99762087-99762087	pancreas	carcinoma	Substitution - Missense
c.1207C>T; p.R403C; 7:99762087-99762087	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.889G>A; p.A297T; 7:99763992-99763992	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.211G>A; p.V71M; 7:99778035-99778035	skin	malignant_melanoma	Substitution - Missense
c.483G>A; p.R161R; 7:99769806-99769806	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.600A>G; p.Q200Q; 7:99768424-99768424	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.613G>A; p.E205K; 7:99768411-99768411	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.739A>C; p.N247H; 7:99767190-99767190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.653C>T; p.P218L; 7:99768371-99768371	skin	malignant_melanoma	Substitution - Missense
c.653C>T; p.P218L; 7:99768371-99768371	skin	malignant_melanoma	Substitution - Missense
c.389G>A; p.R130Q; 7:99770165-99770165	skin	malignant_melanoma	Substitution - Missense
c.165+2T>C; p.?; 7:99779990-99779990	stomach	carcinoma; adenocarcinoma	Unknown
c.573G>A; p.V191V; 7:99768451-99768451	breast	carcinoma	Substitution - coding silent
c.1102C>T; p.P368S; 7:99762192-99762192	skin	malignant_melanoma	Substitution - Missense
c.505C>T; p.P169S; 7:99769784-99769784	breast	carcinoma	Substitution - Missense
c.1170A>C; p.K390N; 7:99762124-99762124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.319-4C>A; p.?; 7:99770239-99770239	liver	carcinoma	Unknown
c.25A>G; p.M9V; 7:99784057-99784057	skin	malignant_melanoma	Substitution - Missense
c.25A>G; p.M9V; 7:99784057-99784057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.25A>G; p.M9V; 7:99784057-99784057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.784G>A; p.E262K; 7:99767145-99767145	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1425G>A; p.L475L; 7:99758220-99758220	skin	malignant_melanoma	Substitution - coding silent
c.1109C>T; p.A370V; 7:99762185-99762185	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1277A>G; p.N426S; 7:99760958-99760958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.122C>T; p.P41L; 7:99780035-99780035	skin	malignant_melanoma	Substitution - Missense
c.784G>A; p.E262K; 7:99767145-99767145	central_nervous_system; brain	glioma	Substitution - Missense
c.784G>A; p.E262K; 7:99767145-99767145	urinary_tract; bladder	carcinoma	Substitution - Missense
c.356C>T; p.S119F; 7:99770198-99770198	skin	malignant_melanoma	Substitution - Missense
c.1175T>G; p.V392G; 7:99762119-99762119	breast	carcinoma	Substitution - Missense
c.356C>T; p.S119F; 7:99770198-99770198	skin	malignant_melanoma	Substitution - Missense
c.1236G>T; p.E412D; 7:99762058-99762058	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.444C>T; p.I148I; 7:99769845-99769845	skin	malignant_melanoma	Substitution - coding silent
c.433-2A>C; p.?; 7:99769858-99769858	skin	malignant_melanoma	Unknown
c.506C>T; p.P169L; 7:99769783-99769783	skin	malignant_melanoma	Substitution - Missense
c.871T>C; p.S291P; 7:99764010-99764010	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.637T>A; p.F213I; 7:99768387-99768387	pancreas	carcinoma	Substitution - Missense
c.637T>A; p.F213I; 7:99768387-99768387	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.392C>T; p.S131L; 7:99770162-99770162	skin	malignant_melanoma	Substitution - Missense
c.342G>A; p.M114I; 7:99770212-99770212	skin	malignant_melanoma	Substitution - Missense
c.527T>C; p.F176S; 7:99768497-99768497	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.730G>T; p.E244*; 7:99767199-99767199	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1046C>T; p.T349I; 7:99762248-99762248	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.793C>T; p.Q265*; 7:99767136-99767136	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1356G>A; p.M452I; 7:99760879-99760879	skin	malignant_melanoma	Substitution - Missense
c.216G>T; p.W72C; 7:99778030-99778030	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1066C>G; p.L356V; 7:99762228-99762228	central_nervous_system; brain	glioma	Substitution - Missense
c.1317C>T; p.P439P; 7:99760918-99760918	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1217A>T; p.K406M; 7:99762077-99762077	skin	malignant_melanoma	Substitution - Missense
c.860A>G; p.H287R; 7:99766382-99766382	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.373G>A; p.E125K; 7:99770181-99770181	skin; trunk	malignant_melanoma	Substitution - Missense
c.373G>A; p.E125K; 7:99770181-99770181	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1088C>T; p.T363M; 7:99762206-99762206	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1249G>C; p.E417Q; 7:99762045-99762045	urinary_tract; bladder	carcinoma	Substitution - Missense
c.635G>T; p.R212I; 7:99768389-99768389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1275C>A; p.D425E; 7:99760960-99760960	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1463C>T; p.P488L; 7:99758182-99758182	skin	malignant_melanoma	Substitution - Missense
c.1155G>A; p.G385G; 7:99762139-99762139	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.763delA; p.R255fs*2; 7:99767166-99767166	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.772G>T; p.E258*; 7:99767157-99767157	pancreas	carcinoid-endocrine_tumour	Substitution - Nonsense
c.580G>A; p.D194N; 7:99768444-99768444	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1356G>T; p.M452I; 7:99760879-99760879	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.26T>C; p.M9T; 7:99784056-99784056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.956A>G; p.Y319C; 7:99763925-99763925	skin	malignant_melanoma	Substitution - Missense
c.1461A>G; p.K487K; 7:99758184-99758184	skin; leg	malignant_melanoma	Substitution - coding silent
c.1250A>G; p.E417G; 7:99762044-99762044	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.110G>A; p.G37E; 7:99780047-99780047	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1208G>A; p.R403H; 7:99762086-99762086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.741T>A; p.N247K; 7:99767188-99767188	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.837G>A; p.Q279Q; 7:99766405-99766405	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.873C>T; p.S291S; 7:99764008-99764008	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1337G>A; p.R446K; 7:99760898-99760898	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1426A>G; p.K476E; 7:99758219-99758219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1089G>A; p.T363T; 7:99762205-99762205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.91G>A; p.G31R; 7:99780066-99780066	skin	malignant_melanoma	Substitution - Missense
c.41T>G; p.L14R; 7:99784041-99784041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.189A>C; p.E63D; 7:99778057-99778057	urinary_tract; bladder	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]