lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	1557
Symbol	CYP2C19
Synonymous	CPCJ\|CYP2C\|CYPIIC17\|CYPIIC19\|P450C2C\|P450IIC19
Full name	cytochrome P450, family 2, subfamily C, polypeptide 19
Gene description	(R)-limonene 6-monooxygenase\|(S)-limonene 6-monooxygenase\|(S)-limonene 7-monooxygenase\|S-mephenytoin 4-hydroxylase\|cytochrome P-450 II C\|cytochrome P450 2C19\|cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19\|cytochrome P450-11A\|cy
Cytoband	10q24
Gene type	protein-coding
Synonymous	MIM:124020; HGNC:HGNC:2621; Ensembl:ENSG00000165841; HPRD:00486; Vega:OTTHUMG00000018799

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.158C>T; p.S53F; 10:94762863-94762863	skin	malignant_melanoma	Substitution - Missense
c.168+7A>G; p.?; 10:94762880-94762880	liver	carcinoma	Unknown
c.168+7A>G; p.?; 10:94762880-94762880	liver	carcinoma	Unknown
c.307G>C; p.A103P; 10:94775196-94775196	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.539C>T; p.S180F; 10:94780556-94780556	urinary_tract; bladder	carcinoma	Substitution - Missense
c.333A>G; p.G111G; 10:94775391-94775391	skin	malignant_melanoma	Substitution - coding silent
c.539C>T; p.S180F; 10:94780556-94780556	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1292G>A; p.G431E; 10:94852733-94852733	skin	malignant_melanoma	Substitution - Missense
c.1292G>A; p.G431E; 10:94852733-94852733	skin	malignant_melanoma	Substitution - Missense
c.1228C>T; p.R410C; 10:94849995-94849995	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.971A>T; p.Q324L; 10:94842846-94842846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1150-1G>T; p.?; 10:94849916-94849916	lung	carcinoma; adenocarcinoma	Unknown
c.529G>A; p.V177M; 10:94780546-94780546	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.193T>C; p.F65L; 10:94775082-94775082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1395G>A; p.K465K; 10:94852836-94852836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1080C>A; p.D360E; 10:94842955-94842955	skin	malignant_melanoma	Substitution - Missense
c.1395G>A; p.K465K; 10:94852836-94852836	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.104C>T; p.P35L; 10:94762809-94762809	skin	malignant_melanoma	Substitution - Missense
c.331+1G>T; p.?; 10:94775221-94775221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.804G>C; p.L268L; 10:94781982-94781982	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.874G>C; p.A292P; 10:94820550-94820550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.331+1G>T; p.?; 10:94775221-94775221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.331+1G>T; p.?; 10:94775221-94775221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.331+1G>T; p.?; 10:94775221-94775221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.331+1G>T; p.?; 10:94775221-94775221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.331+1G>T; p.?; 10:94775221-94775221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1130G>A; p.R377K; 10:94843005-94843005	skin	malignant_melanoma	Substitution - Missense
c.474A>G; p.K158K; 10:94775532-94775532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.268C>A; p.L90I; 10:94775157-94775157	skin	malignant_melanoma	Substitution - Missense
c.472A>G; p.K158E; 10:94775530-94775530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.990C>T; p.V330V; 10:94842865-94842865	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.990C>T; p.V330V; 10:94842865-94842865	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.990C>T; p.V330V; 10:94842865-94842865	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.561C>T; p.F187F; 10:94780578-94780578	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.561C>T; p.F187F; 10:94780578-94780578	skin	malignant_melanoma	Substitution - coding silent
c.1238T>C; p.L413P; 10:94850005-94850005	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.561C>T; p.F187F; 10:94780578-94780578	skin	malignant_melanoma	Substitution - coding silent
c.1049C>T; p.A350V; 10:94842924-94842924	skin	malignant_melanoma	Substitution - Missense
c.1325G>A; p.R442H; 10:94852766-94852766	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1325G>A; p.R442H; 10:94852766-94852766	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1325G>A; p.R442H; 10:94852766-94852766	prostate	carcinoma	Substitution - Missense
c.77G>A; p.R26K; 10:94762782-94762782	skin	malignant_melanoma	Substitution - Missense
c.77G>A; p.R26K; 10:94762782-94762782	skin	malignant_melanoma	Substitution - Missense
c.973G>A; p.E325K; 10:94842848-94842848	skin	malignant_melanoma	Substitution - Missense
c.235G>T; p.G79*; 10:94775124-94775124	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.220A>G; p.M74V; 10:94775109-94775109	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.898G>A; p.E300K; 10:94820574-94820574	skin	malignant_melanoma	Substitution - Missense
c.356G>A; p.R119K; 10:94775414-94775414	skin	malignant_melanoma	Substitution - Missense
c.493G>A; p.D165N; 10:94780510-94780510	skin	malignant_melanoma	Substitution - Missense
c.493G>A; p.D165N; 10:94780510-94780510	skin	malignant_melanoma	Substitution - Missense
c.765G>A; p.M255I; 10:94781943-94781943	skin	malignant_melanoma	Substitution - Missense
c.978G>A; p.E326E; 10:94842853-94842853	skin	malignant_melanoma	Substitution - coding silent
c.1078G>A; p.D360N; 10:94842953-94842953	skin	malignant_melanoma	Substitution - Missense
c.179T>G; p.I60S; 10:94775068-94775068	skin	malignant_melanoma	Substitution - Missense
c.213G>A; p.L71L; 10:94775102-94775102	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1334T>A; p.L445Q; 10:94852775-94852775	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1097T>A; p.L366Q; 10:94842972-94842972	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.87C>T; p.L29L; 10:94762792-94762792	skin	malignant_melanoma	Substitution - coding silent
c.566A>G; p.Y189C; 10:94780583-94780583	liver	carcinoma	Substitution - Missense
c.235G>A; p.G79R; 10:94775124-94775124	skin	malignant_melanoma	Substitution - Missense
c.1145C>T; p.P382L; 10:94843020-94843020	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1212A>C; p.P404P; 10:94849979-94849979	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1166C>T; p.T389I; 10:94849933-94849933	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.364G>A; p.E122K; 10:94775422-94775422	skin	malignant_melanoma	Substitution - Missense
c.658C>T; p.P220S; 10:94781836-94781836	skin	malignant_melanoma	Substitution - Missense
c.658C>T; p.P220S; 10:94781836-94781836	skin	malignant_melanoma	Substitution - Missense
c.531G>A; p.V177V; 10:94780548-94780548	skin	malignant_melanoma	Substitution - coding silent
c.531G>A; p.V177V; 10:94780548-94780548	skin	malignant_melanoma	Substitution - coding silent
c.299T>G; p.F100C; 10:94775188-94775188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.658C>T; p.P220S; 10:94781836-94781836	skin	malignant_melanoma	Substitution - Missense
c.159C>G; p.S53S; 10:94762864-94762864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.954G>A; p.E318E; 10:94820630-94820630	skin	malignant_melanoma	Substitution - coding silent
c.683G>T; p.G228V; 10:94781861-94781861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1329G>A; p.M443I; 10:94852770-94852770	skin	malignant_melanoma	Substitution - Missense
c.132G>A; p.Q44Q; 10:94762837-94762837	skin	malignant_melanoma	Substitution - coding silent
c.557G>T; p.R186L; 10:94780574-94780574	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.448C>T; p.R150C; 10:94775506-94775506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.695A>G; p.K232R; 10:94781873-94781873	skin	malignant_melanoma	Substitution - Missense
c.636G>A; p.W212*; 10:94780653-94780653	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1010C>A; p.P337H; 10:94842885-94842885	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.603G>A; p.L201L; 10:94780620-94780620	skin	malignant_melanoma	Substitution - coding silent
c.374G>A; p.R125H; 10:94775432-94775432	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.374G>A; p.R125H; 10:94775432-94775432	thyroid	carcinoma	Substitution - Missense
c.374G>A; p.R125H; 10:94775432-94775432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1379C>A; p.S460Y; 10:94852820-94852820	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.436C>T; p.Q146*; 10:94775494-94775494	skin	malignant_melanoma	Substitution - Nonsense
c.1169C>T; p.S390F; 10:94849936-94849936	skin	malignant_melanoma	Substitution - Missense
c.995G>A; p.G332D; 10:94842870-94842870	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.807C>T; p.I269I; 10:94781985-94781985	skin	malignant_melanoma	Substitution - coding silent
c.1299G>A; p.R433R; 10:94852740-94852740	skin	malignant_melanoma	Substitution - coding silent
c.593T>C; p.M198T; 10:94780610-94780610	oesophagus	carcinoma	Substitution - Missense
c.360G>A; p.W120*; 10:94775418-94775418	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.360G>A; p.W120*; 10:94775418-94775418	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.792T>C; p.I264I; 10:94781970-94781970	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.300C>T; p.F100F; 10:94775189-94775189	skin	malignant_melanoma	Substitution - coding silent
c.300C>T; p.F100F; 10:94775189-94775189	skin	malignant_melanoma	Substitution - coding silent
c.1472G>A; p.491; 10:94852913-94852913	skin	malignant_melanoma	Substitution - coding silent
c.1472G>A; p.491; 10:94852913-94852913	skin	malignant_melanoma	Substitution - coding silent
c.1310G>A; p.G437E; 10:94852751-94852751	skin	malignant_melanoma	Substitution - Missense
c.761C>T; p.S254L; 10:94781939-94781939	skin	malignant_melanoma	Substitution - Missense
c.1095C>A; p.S365R; 10:94842970-94842970	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.390G>A; p.T130T; 10:94775448-94775448	breast	carcinoma	Substitution - coding silent
c.853G>A; p.E285K; 10:94820529-94820529	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.165C>T; p.T55T; 10:94762870-94762870	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.562G>A; p.D188N; 10:94780579-94780579	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1249_1250GG>TT; p.G417L; 10:94850016-94850017	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1325G>T; p.R442L; 10:94852766-94852766	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1004G>A; p.R335Q; 10:94842879-94842879	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1097T>C; p.L366P; 10:94842972-94842972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.349G>A; p.G117R; 10:94775407-94775407	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.380C>T; p.S127F; 10:94775438-94775438	skin	malignant_melanoma	Substitution - Missense
c.396G>A; p.R132R; 10:94775454-94775454	skin	malignant_melanoma	Substitution - coding silent
c.846C>A; p.F282L; 10:94820522-94820522	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.487C>T; p.P163S; 10:94780504-94780504	skin	malignant_melanoma	Substitution - Missense
c.970C>T; p.Q324*; 10:94842845-94842845	skin; neck	malignant_melanoma	Substitution - Nonsense
c.678C>T; p.F226F; 10:94781856-94781856	skin	malignant_melanoma	Substitution - coding silent
c.336C>T; p.I112I; 10:94775394-94775394	skin	malignant_melanoma	Substitution - coding silent
c.241G>A; p.E81K; 10:94775130-94775130	skin	malignant_melanoma	Substitution - Missense
c.473A>G; p.K158R; 10:94775531-94775531	large_intestine; rectum	NS	Substitution - Missense
c.861G>T; p.L287F; 10:94820537-94820537	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.748G>A; p.E250K; 10:94781926-94781926	skin	malignant_melanoma	Substitution - Missense
c.748G>A; p.E250K; 10:94781926-94781926	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.394C>T; p.R132W; 10:94775452-94775452	central_nervous_system; brain	glioma	Substitution - Missense
c.394C>T; p.R132W; 10:94775452-94775452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1297C>T; p.R433W; 10:94852738-94852738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1183C>T; p.L395L; 10:94849950-94849950	skin	malignant_melanoma	Substitution - coding silent
c.1204C>T; p.P402S; 10:94849971-94849971	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1204C>T; p.P402S; 10:94849971-94849971	skin; mucosal	malignant_melanoma	Substitution - Missense
c.721G>A; p.E241K; 10:94781899-94781899	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.G91E; 10:94775161-94775161	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.449G>A; p.R150H; 10:94775507-94775507	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.79G>A; p.G27R; 10:94762784-94762784	skin	malignant_melanoma	Substitution - Missense
c.42G>T; p.L14F; 10:94762747-94762747	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1140C>T; p.L380L; 10:94843015-94843015	skin	malignant_melanoma	Substitution - coding silent
c.1437C>T; p.V479V; 10:94852878-94852878	skin	malignant_melanoma	Substitution - coding silent
c.595G>A; p.E199K; 10:94780612-94780612	skin	malignant_melanoma	Substitution - Missense
c.1178C>T; p.S393F; 10:94849945-94849945	skin	malignant_melanoma	Substitution - Missense
c.921A>C; p.R307S; 10:94820597-94820597	skin	malignant_melanoma	Substitution - Missense
c.1218G>C; p.M406I; 10:94849985-94849985	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1045G>A; p.D349N; 10:94842920-94842920	breast	carcinoma	Substitution - Missense
c.990C>A; p.V330V; 10:94842865-94842865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.323G>A; p.R108K; 10:94775212-94775212	skin	malignant_melanoma	Substitution - Missense
c.323G>A; p.R108K; 10:94775212-94775212	skin	malignant_melanoma	Substitution - Missense
c.427G>A; p.D143N; 10:94775485-94775485	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.521C>T; p.P174L; 10:94780538-94780538	skin	malignant_melanoma	Substitution - Missense
c.666C>T; p.I222I; 10:94781844-94781844	skin	malignant_melanoma	Substitution - coding silent
c.985C>T; p.R329C; 10:94842860-94842860	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.423T>C; p.I141I; 10:94775481-94775481	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.628A>C; p.T210P; 10:94780645-94780645	breast	carcinoma	Substitution - Missense
c.8C>T; p.P3L; 10:94762713-94762713	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8C>T; p.P3L; 10:94762713-94762713	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.481+1G>C; p.?; 10:94775540-94775540	central_nervous_system; brain	glioma	Unknown
c.350G>A; p.G117E; 10:94775408-94775408	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1137C>T; p.Y379Y; 10:94843012-94843012	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1070G>T; p.R357I; 10:94842945-94842945	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1280C>G; p.P427R; 10:94850047-94850047	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.766G>A; p.D256N; 10:94781944-94781944	skin	malignant_melanoma	Substitution - Missense
c.55A>T; p.I19F; 10:94762760-94762760	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1128C>T; p.F376F; 10:94843003-94843003	skin	malignant_melanoma	Substitution - coding silent
c.1128C>T; p.F376F; 10:94843003-94843003	skin	malignant_melanoma	Substitution - coding silent
c.513C>T; p.G171G; 10:94780530-94780530	skin	malignant_melanoma	Substitution - coding silent
c.820-1G>T; p.?; 10:94820495-94820495	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.650A>T; p.N217I; 10:94781828-94781828	liver	carcinoma	Substitution - Missense
c.453C>T; p.C151C; 10:94775511-94775511	skin	malignant_melanoma	Substitution - coding silent
c.112G>A; p.V38M; 10:94762817-94762817	skin	malignant_melanoma	Substitution - Missense
c.331+1G>C; p.?; 10:94775221-94775221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1086delC; p.T364fs*7; 10:94842961-94842961	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.574C>T; p.Q192*; 10:94780591-94780591	skin; neck	malignant_melanoma	Substitution - Nonsense
c.930C>A; p.L310L; 10:94820606-94820606	breast	carcinoma	Substitution - coding silent
c.952G>A; p.E318K; 10:94820628-94820628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1440G>A; p.P480P; 10:94852881-94852881	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.283T>G; p.S95A; 10:94775172-94775172	skin	malignant_melanoma	Substitution - Missense
c.1250G>A; p.G417E; 10:94850017-94850017	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1250G>A; p.G417E; 10:94850017-94850017	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.472A>C; p.K158Q; 10:94775530-94775530	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.64C>T; p.Q22*; 10:94762769-94762769	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.96C>A; p.G32G; 10:94762801-94762801	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.145G>T; p.D49Y; 10:94762850-94762850	breast	carcinoma	Substitution - Missense
c.48C>T; p.L16L; 10:94762753-94762753	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1086C>T; p.I362I; 10:94842961-94842961	skin	malignant_melanoma	Substitution - coding silent
c.630C>T; p.T210T; 10:94780647-94780647	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1194C>A; p.N398K; 10:94849961-94849961	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1084A>G; p.I362V; 10:94842959-94842959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.971A>G; p.Q324R; 10:94842846-94842846	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1120G>A; p.V374I; 10:94842995-94842995	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.497C>T; p.P166L; 10:94780514-94780514	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1298G>A; p.R433Q; 10:94852739-94852739	skin	malignant_melanoma	Substitution - Missense
c.1424G>A; p.G475E; 10:94852865-94852865	central_nervous_system; brain	glioma	Substitution - Missense
c.1298G>A; p.R433Q; 10:94852739-94852739	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; desmoplastic	Substitution - Missense
c.447C>T; p.A149A; 10:94775505-94775505	skin	malignant_melanoma	Substitution - coding silent
c.310G>C; p.E104Q; 10:94775199-94775199	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.347A>T; p.N116I; 10:94775405-94775405	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.688C>T; p.H230Y; 10:94781866-94781866	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.398A>G; p.N133S; 10:94775456-94775456	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.428A>G; p.D143G; 10:94775486-94775486	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.126C>T; p.I42I; 10:94762831-94762831	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.126C>T; p.I42I; 10:94762831-94762831	skin	malignant_melanoma	Substitution - coding silent
c.428A>G; p.D143G; 10:94775486-94775486	stomach	adenocarcinoma	Substitution - Missense
c.126C>T; p.I42I; 10:94762831-94762831	skin	malignant_melanoma	Substitution - coding silent
c.512G>T; p.G171V; 10:94780529-94780529	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1362G>A; p.Q454Q; 10:94852803-94852803	skin	malignant_melanoma	Substitution - coding silent
c.986G>A; p.R329H; 10:94842861-94842861	central_nervous_system; brain	glioma	Substitution - Missense
c.7C>T; p.P3S; 10:94762712-94762712	NS	malignant_melanoma	Substitution - Missense
c.7C>T; p.P3S; 10:94762712-94762712	NS	malignant_melanoma	Substitution - Missense
c.986G>A; p.R329H; 10:94842861-94842861	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.618G>A; p.R206R; 10:94780635-94780635	skin	malignant_melanoma	Substitution - coding silent
c.430C>A; p.R144S; 10:94775488-94775488	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.35C>T; p.S12L; 10:94762740-94762740	skin	malignant_melanoma	Substitution - Missense
c.354G>A; p.K118K; 10:94775412-94775412	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1439C>T; p.P480L; 10:94852880-94852880	breast	carcinoma	Substitution - Missense
c.214G>A; p.E72K; 10:94775103-94775103	skin; extremity	malignant_melanoma	Substitution - Missense
c.1362G>T; p.Q454H; 10:94852803-94852803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1465C>T; p.P489S; 10:94852906-94852906	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1246G>T; p.G416C; 10:94850013-94850013	breast	carcinoma	Substitution - Missense
c.326G>A; p.G109E; 10:94775215-94775215	skin	malignant_melanoma	Substitution - Missense
c.236G>A; p.G79E; 10:94775125-94775125	NS	malignant_melanoma	Substitution - Missense
c.326G>A; p.G109E; 10:94775215-94775215	skin	malignant_melanoma	Substitution - Missense
c.236G>A; p.G79E; 10:94775125-94775125	skin	malignant_melanoma	Substitution - Missense
c.236G>A; p.G79E; 10:94775125-94775125	skin	malignant_melanoma	Substitution - Missense
c.147T>A; p.D49E; 10:94762852-94762852	breast	carcinoma	Substitution - Missense
c.571G>T; p.D191Y; 10:94780588-94780588	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1096C>A; p.L366M; 10:94842971-94842971	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1060G>A; p.E354K; 10:94842935-94842935	skin	malignant_melanoma	Substitution - Missense
c.1077C>T; p.I359I; 10:94842952-94842952	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1060G>A; p.E354K; 10:94842935-94842935	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1077C>T; p.I359I; 10:94842952-94842952	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.976G>C; p.E326Q; 10:94842851-94842851	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1365C>A; p.N455K; 10:94852806-94852806	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.820-2_820-1AG>TA; p.?; 10:94820494-94820495	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.681G>A; p.P227P; 10:94781859-94781859	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.681G>A; p.P227P; 10:94781859-94781859	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.681G>A; p.P227P; 10:94781859-94781859	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.953A>C; p.E318A; 10:94820629-94820629	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.757G>A; p.E253K; 10:94781935-94781935	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation