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	8714
Symbol	ABCC3
Synonymous	ABC31\|EST90757\|MLP2\|MOAT-D\|MRP3\|cMOAT2
Full name	ATP-binding cassette, sub-family C (CFTR/MRP), member 3
Gene description	ATP-binding cassette sub-family C member 3\|canalicular multispecific organic anion transporter 2\|canicular multispecific organic anion transporter\|multi-specific organic anion transporter D\|multidrug resistance associated protein\|multidrug resistance-asso
Cytoband	17q22
Gene type	protein-coding
Synonymous	MIM:604323; HGNC:HGNC:54; Ensembl:ENSG00000108846; HPRD:06826; Vega:OTTHUMG00000162245

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.487G>A; p.G163S; 17:50658082-50658082	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.487G>A; p.G163S; 17:50658082-50658082	urinary_tract; bladder	carcinoma	Substitution - Missense
c.487G>A; p.G163S; 17:50658082-50658082	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.802G>A; p.A268T; 17:50659364-50659364	skin	malignant_melanoma	Substitution - Missense
c.4354G>T; p.A1452S; 17:50687609-50687609	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3857G>A; p.R1286H; 17:50683659-50683659	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.259G>T; p.D87Y; 17:50656738-50656738	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1221G>A; p.G407G; 17:50663994-50663994	skin	malignant_melanoma	Substitution - coding silent
c.121C>T; p.P41S; 17:50655907-50655907	skin	malignant_melanoma	Substitution - Missense
c.1261A>T; p.M421L; 17:50664034-50664034	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1423G>A; p.A475T; 17:50665237-50665237	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.185G>A; p.G62D; 17:50655971-50655971	skin	malignant_melanoma	Substitution - Missense
c.2929C>T; p.L977L; 17:50675952-50675952	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1423G>A; p.A475T; 17:50665237-50665237	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1897A>G; p.T633A; 17:50668879-50668879	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2955C>T; p.A985A; 17:50675978-50675978	kidney	other; neoplasm	Substitution - coding silent
c.4448G>A; p.R1483Q; 17:50687703-50687703	large_intestine; colon	adenoma	Substitution - Missense
c.2350C>T; p.H784Y; 17:50673079-50673079	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3680G>T; p.G1227V; 17:50678194-50678194	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2498G>A; p.G833D; 17:50673557-50673557	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1302C>T; p.P434P; 17:50664075-50664075	skin	malignant_melanoma	Substitution - coding silent
c.3166C>T; p.P1056S; 17:50676376-50676376	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3166C>T; p.P1056S; 17:50676376-50676376	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3457G>A; p.E1153K; 17:50677822-50677822	skin	malignant_melanoma	Substitution - Missense
c.4061T>A; p.V1354E; 17:50684055-50684055	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.4061T>A; p.V1354E; 17:50684055-50684055	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.4061T>A; p.V1354E; 17:50684055-50684055	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.3457G>A; p.E1153K; 17:50677822-50677822	skin	malignant_melanoma	Substitution - Missense
c.1057G>A; p.A353T; 17:50663739-50663739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.468C>T; p.I156I; 17:50657165-50657165	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.468C>T; p.I156I; 17:50657165-50657165	skin	malignant_melanoma	Substitution - coding silent
c.401C>T; p.S134L; 17:50657098-50657098	NS	malignant_melanoma	Substitution - Missense
c.468C>T; p.I156I; 17:50657165-50657165	skin	malignant_melanoma	Substitution - coding silent
c.401C>T; p.S134L; 17:50657098-50657098	skin	malignant_melanoma	Substitution - Missense
c.401C>T; p.S134L; 17:50657098-50657098	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.272C>T; p.S91F; 17:50656751-50656751	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.401C>T; p.S134L; 17:50657098-50657098	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2361G>C; p.K787N; 17:50673090-50673090	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3983G>A; p.G1328D; 17:50683977-50683977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3603C>T; p.F1201F; 17:50678117-50678117	skin	malignant_melanoma	Substitution - coding silent
c.3603C>T; p.F1201F; 17:50678117-50678117	skin	malignant_melanoma	Substitution - coding silent
c.39G>C; p.K13N; 17:50634975-50634975	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3455C>T; p.S1152L; 17:50677820-50677820	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.4312C>G; p.R1438G; 17:50687567-50687567	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1536G>T; p.K512N; 17:50667658-50667658	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3174C>T; p.S1058S; 17:50676384-50676384	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.441C>T; p.C147C; 17:50657138-50657138	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4162G>A; p.G1388S; 17:50684757-50684757	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3327G>A; p.P1109P; 17:50676537-50676537	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1656G>A; p.W552*; 17:50667883-50667883	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1915G>A; p.D639N; 17:50668897-50668897	skin	malignant_melanoma	Substitution - Missense
c.4513G>T; p.D1505Y; 17:50691129-50691129	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.614A>G; p.N205S; 17:50658436-50658436	skin	malignant_melanoma	Substitution - Missense
c.2605G>A; p.E869K; 17:50675367-50675367	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1429C>G; p.Q477E; 17:50665243-50665243	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4447C>T; p.R1483W; 17:50687702-50687702	skin	malignant_melanoma	Substitution - Missense
c.4076T>G; p.L1359R; 17:50684070-50684070	skin	malignant_melanoma	Substitution - Missense
c.1973C>A; p.A658D; 17:50669175-50669175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4012C>A; p.R1338S; 17:50684006-50684006	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3949G>C; p.E1317Q; 17:50683751-50683751	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3418G>A; p.E1140K; 17:50677783-50677783	skin	malignant_melanoma	Substitution - Missense
c.1412T>C; p.V471A; 17:50665226-50665226	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1330C>T; p.L444F; 17:50664103-50664103	skin	malignant_melanoma	Substitution - Missense
c.643_657del15; p.L215_F219delLSRLF; 17:50658465-50658479	prostate	carcinoma	Deletion - In frame
c.376G>C; p.E126Q; 17:50657073-50657073	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3987G>A; p.K1329K; 17:50683981-50683981	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2836G>C; p.E946Q; 17:50675752-50675752	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4136C>T; p.T1379I; 17:50684731-50684731	skin	malignant_melanoma	Substitution - Missense
c.3431G>C; p.R1144P; 17:50677796-50677796	breast	carcinoma	Substitution - Missense
c.4277_4278insT; p.S1427fs*35; 17:50684872-50684873	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.3013C>T; p.Q1005*; 17:50676036-50676036	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3449A>C; p.H1150P; 17:50677814-50677814	breast	carcinoma	Substitution - Missense
c.573G>A; p.R191R; 17:50658168-50658168	skin	malignant_melanoma	Substitution - coding silent
c.1093C>G; p.L365V; 17:50663775-50663775	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1488C>T; p.N496N; 17:50667610-50667610	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.778T>C; p.W260R; 17:50659340-50659340	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.352C>A; p.L118M; 17:50657049-50657049	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1886T>C; p.I629T; 17:50668868-50668868	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.265T>G; p.F89V; 17:50656744-50656744	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2416G>A; p.V806M; 17:50673475-50673475	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2416G>A; p.V806M; 17:50673475-50673475	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3053T>C; p.L1018S; 17:50676076-50676076	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2416G>A; p.V806M; 17:50673475-50673475	large_intestine; colon	carcinoma	Substitution - Missense
c.607G>A; p.D203N; 17:50658202-50658202	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2416G>A; p.V806M; 17:50673475-50673475	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2272C>T; p.R758W; 17:50673001-50673001	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4128C>T; p.F1376F; 17:50684723-50684723	skin	malignant_melanoma	Substitution - coding silent
c.3776G>A; p.R1259K; 17:50679868-50679868	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3811C>T; p.P1271S; 17:50683613-50683613	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3979G>T; p.A1327S; 17:50683973-50683973	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1160G>A; p.G387D; 17:50663842-50663842	skin	malignant_melanoma	Substitution - Missense
c.3920G>C; p.R1307T; 17:50683722-50683722	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1657_1662delGTGTAC; p.Y556_V557delYV; 17:50667884-50667889	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.2114T>G; p.L705R; 17:50669401-50669401	skin	malignant_melanoma	Substitution - Missense
c.2428C>T; p.H810Y; 17:50673487-50673487	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.649C>T; p.R217C; 17:50658471-50658471	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1675C>A; p.P559T; 17:50667902-50667902	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1746C>T; p.L582L; 17:50667973-50667973	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2562C>T; p.P854P; 17:50673621-50673621	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.2948C>T; p.A983V; 17:50675971-50675971	liver	carcinoma	Substitution - Missense
c.3026C>T; p.S1009F; 17:50676049-50676049	skin	malignant_melanoma	Substitution - Missense
c.3026C>T; p.S1009F; 17:50676049-50676049	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2948C>T; p.A983V; 17:50675971-50675971	liver	carcinoma	Substitution - Missense
c.3809C>T; p.A1270V; 17:50683611-50683611	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4413G>C; p.Q1471H; 17:50687668-50687668	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2608G>T; p.G870C; 17:50675370-50675370	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.921C>T; p.F307F; 17:50661037-50661037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2897_2898insG; p.L968fs*31; 17:50675920-50675921	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.557T>G; p.I186S; 17:50658152-50658152	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1622G>T; p.C541F; 17:50667744-50667744	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.390C>T; p.G130G; 17:50657087-50657087	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.633C>T; p.S211S; 17:50658455-50658455	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1828G>A; p.E610K; 17:50668475-50668475	skin	malignant_melanoma	Substitution - Missense
c.4440C>T; p.I1480I; 17:50687695-50687695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2427G>A; p.T809T; 17:50673486-50673486	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1270G>T; p.A424S; 17:50664043-50664043	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1828G>A; p.E610K; 17:50668475-50668475	skin	malignant_melanoma	Substitution - Missense
c.741C>T; p.D247D; 17:50659303-50659303	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3799G>C; p.E1267Q; 17:50679891-50679891	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1566C>G; p.L522L; 17:50667688-50667688	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1314C>T; p.I438I; 17:50664087-50664087	skin	malignant_melanoma	Substitution - coding silent
c.4003T>G; p.C1335G; 17:50683997-50683997	kidney	other; neoplasm	Substitution - Missense
c.181C>T; p.R61C; 17:50655967-50655967	meninges	meningioma; haemangiopericytic	Substitution - Missense
c.3889C>T; p.R1297C; 17:50683691-50683691	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4465G>T; p.D1489Y; 17:50687720-50687720	pancreas	carcinoma	Substitution - Missense
c.3804A>G; p.T1268T; 17:50679896-50679896	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3164C>T; p.S1055L; 17:50676374-50676374	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3164C>T; p.S1055L; 17:50676374-50676374	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4409C>G; p.T1470S; 17:50687664-50687664	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1108_1109delTA; p.Y370fs*123; 17:50663790-50663791	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1320G>A; p.A440A; 17:50664093-50664093	skin	malignant_melanoma	Substitution - coding silent
c.1651C>A; p.L551I; 17:50667878-50667878	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1015A>G; p.I339V; 17:50663697-50663697	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1380C>T; p.V460V; 17:50665194-50665194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1802G>A; p.R601Q; 17:50668449-50668449	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.1211C>T; p.S404F; 17:50663984-50663984	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1443G>A; p.M481I; 17:50667565-50667565	skin	malignant_melanoma	Substitution - Missense
c.1443G>A; p.M481I; 17:50667565-50667565	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1801C>T; p.R601W; 17:50668448-50668448	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1801C>T; p.R601W; 17:50668448-50668448	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4501G>A; p.V1501I; 17:50691117-50691117	prostate	carcinoma	Substitution - Missense
c.1306C>T; p.Q436*; 17:50664079-50664079	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4441G>A; p.A1481T; 17:50687696-50687696	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.424T>G; p.F142V; 17:50657121-50657121	thyroid	other; neoplasm	Substitution - Missense
c.2052A>T; p.K684N; 17:50669254-50669254	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.684C>G; p.I228M; 17:50659246-50659246	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3191C>A; p.P1064Q; 17:50676401-50676401	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1313T>G; p.I438S; 17:50664086-50664086	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.842_843CC>TT; p.S281F; 17:50660958-50660959	skin	malignant_melanoma	Substitution - Missense
c.2006_2007CC>TT; p.S669F; 17:50669208-50669209	skin	malignant_melanoma	Substitution - Missense
c.78G>A; p.P26P; 17:50655864-50655864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2677G>A; p.D893N; 17:50675439-50675439	skin	malignant_melanoma	Substitution - Missense
c.2521C>A; p.R841S; 17:50673580-50673580	breast	carcinoma	Substitution - Missense
c.1955C>T; p.P652L; 17:50669157-50669157	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.537C>T; p.A179A; 17:50658132-50658132	skin	malignant_melanoma	Substitution - coding silent
c.222+1G>A; p.?; 17:50656009-50656009	skin	malignant_melanoma	Unknown
c.1881C>T; p.I627I; 17:50668863-50668863	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1881C>T; p.I627I; 17:50668863-50668863	skin	malignant_melanoma	Substitution - coding silent
c.3569T>C; p.I1190T; 17:50677934-50677934	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2460C>T; p.F820F; 17:50673519-50673519	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2281C>T; p.L761L; 17:50673010-50673010	skin	malignant_melanoma	Substitution - coding silent
c.443C>T; p.A148V; 17:50657140-50657140	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1741C>T; p.P581S; 17:50667968-50667968	skin	malignant_melanoma	Substitution - Missense
c.2395G>T; p.V799L; 17:50673124-50673124	liver	carcinoma	Substitution - Missense
c.2395G>T; p.V799L; 17:50673124-50673124	liver	carcinoma	Substitution - Missense
c.3253C>T; p.P1085S; 17:50676463-50676463	skin	malignant_melanoma	Substitution - Missense
c.4496G>A; p.G1499E; 17:50691112-50691112	skin	malignant_melanoma	Substitution - Missense
c.2600C>T; p.A867V; 17:50675362-50675362	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.258G>A; p.A86A; 17:50656737-50656737	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3954+7G>A; p.?; 17:50683763-50683763	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.258G>A; p.A86A; 17:50656737-50656737	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2290G>A; p.A764T; 17:50673019-50673019	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1338G>C; p.Q446H; 17:50664111-50664111	prostate	carcinoma	Substitution - Missense
c.3095C>T; p.A1032V; 17:50676305-50676305	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1399G>A; p.G467R; 17:50665213-50665213	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1005G>A; p.L335L; 17:50663687-50663687	skin; foot	malignant_melanoma; acral_lentiginous	Substitution - coding silent
c.3694T>C; p.Y1232H; 17:50678208-50678208	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1756C>T; p.P586S; 17:50667983-50667983	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.447C>T; p.I149I; 17:50657144-50657144	skin	malignant_melanoma	Substitution - coding silent
c.3459G>C; p.E1153D; 17:50677824-50677824	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2377G>A; p.V793I; 17:50673106-50673106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3942C>T; p.H1314H; 17:50683744-50683744	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3223G>A; p.D1075N; 17:50676433-50676433	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.759G>C; p.V253V; 17:50659321-50659321	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.736G>A; p.E246K; 17:50659298-50659298	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.252C>T; p.S84S; 17:50656731-50656731	skin	malignant_melanoma	Substitution - coding silent
c.2426C>T; p.T809M; 17:50673485-50673485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2096G>A; p.W699*; 17:50669383-50669383	skin	malignant_melanoma	Substitution - Nonsense
c.4363G>A; p.A1455T; 17:50687618-50687618	ovary	other; neoplasm	Substitution - Missense
c.4363G>A; p.A1455T; 17:50687618-50687618	ovary	other; neoplasm	Substitution - Missense
c.3312C>G; p.I1104M; 17:50676522-50676522	urinary_tract; bladder	carcinoma	Substitution - Missense
c.228G>T; p.L76L; 17:50656707-50656707	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2125G>A; p.V709M; 17:50669412-50669412	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2125G>A; p.V709M; 17:50669412-50669412	stomach	adenocarcinoma	Substitution - Missense
c.2379C>G; p.V793V; 17:50673108-50673108	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3496C>T; p.R1166C; 17:50677861-50677861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1998G>A; p.G666G; 17:50669200-50669200	skin	malignant_melanoma	Substitution - coding silent
c.1368C>T; p.V456V; 17:50665182-50665182	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2501C>T; p.P834L; 17:50673560-50673560	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4093C>G; p.Q1365E; 17:50684087-50684087	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2025G>A; p.L675L; 17:50669227-50669227	skin	malignant_melanoma	Substitution - coding silent
c.991C>G; p.L331V; 17:50661107-50661107	skin	malignant_melanoma	Substitution - Missense
c.667T>C; p.F223L; 17:50658489-50658489	skin	malignant_melanoma	Substitution - Missense
c.618C>G; p.P206P; 17:50658440-50658440	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2726C>T; p.A909V; 17:50675642-50675642	skin	malignant_melanoma	Substitution - Missense
c.3516C>A; p.I1172I; 17:50677881-50677881	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1308G>A; p.Q436Q; 17:50664081-50664081	skin	malignant_melanoma	Substitution - coding silent
c.618C>G; p.P206P; 17:50658440-50658440	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4029delA; p.K1344fs*23; 17:50684023-50684023	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.1767C>T; p.I589I; 17:50667994-50667994	skin	malignant_melanoma	Substitution - coding silent
c.3734G>A; p.R1245Q; 17:50679826-50679826	skin	malignant_melanoma	Substitution - Missense
c.3497G>A; p.R1166H; 17:50677862-50677862	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1974C>T; p.A658A; 17:50669176-50669176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4266C>T; p.G1422G; 17:50684861-50684861	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.517A>C; p.T173P; 17:50658112-50658112	breast	carcinoma	Substitution - Missense
c.3322A>G; p.T1108A; 17:50676532-50676532	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2950G>C; p.A984P; 17:50675973-50675973	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4338C>T; p.I1446I; 17:50687593-50687593	skin	malignant_melanoma	Substitution - coding silent
c.3774G>C; p.E1258D; 17:50679866-50679866	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1052T>C; p.L351P; 17:50663734-50663734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1743C>T; p.P581P; 17:50667970-50667970	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2027G>A; p.G676E; 17:50669229-50669229	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3725G>A; p.W1242*; 17:50679817-50679817	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.3528T>C; p.T1176T; 17:50677893-50677893	skin	malignant_melanoma	Substitution - coding silent
c.338G>T; p.G113V; 17:50656817-50656817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1459C>T; p.R487C; 17:50667581-50667581	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2340G>T; p.A780A; 17:50673069-50673069	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1091C>T; p.S364L; 17:50663773-50663773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.861_862GC>AA; p.L288M; 17:50660977-50660978	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1319C>T; p.A440V; 17:50664092-50664092	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4422C>A; p.T1474T; 17:50687677-50687677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2213G>T; p.G738V; 17:50669500-50669500	breast	carcinoma	Substitution - Missense
c.2569G>A; p.D857N; 17:50673628-50673628	skin	malignant_melanoma	Substitution - Missense
c.932T>A; p.F311Y; 17:50661048-50661048	kidney	other; neoplasm	Substitution - Missense
c.682A>G; p.I228V; 17:50659244-50659244	pancreas	carcinoma	Substitution - Missense
c.1155C>T; p.I385I; 17:50663837-50663837	skin	malignant_melanoma	Substitution - coding silent
c.2877C>A; p.F959L; 17:50675900-50675900	breast	carcinoma	Substitution - Missense
c.913G>A; p.A305T; 17:50661029-50661029	skin	malignant_melanoma	Substitution - Missense
c.3036G>A; p.L1012L; 17:50676059-50676059	skin	malignant_melanoma	Substitution - coding silent
c.903G>A; p.K301K; 17:50661019-50661019	skin	malignant_melanoma	Substitution - coding silent
c.3657C>A; p.S1219R; 17:50678171-50678171	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3657C>A; p.S1219R; 17:50678171-50678171	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3862G>A; p.E1288K; 17:50683664-50683664	skin	malignant_melanoma	Substitution - Missense
c.3185C>T; p.T1062I; 17:50676395-50676395	skin	malignant_melanoma	Substitution - Missense
c.714G>T; p.K238N; 17:50659276-50659276	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1184T>C; p.V395A; 17:50663957-50663957	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.136T>G; p.W46G; 17:50655922-50655922	skin	malignant_melanoma	Substitution - Missense
c.3570C>T; p.I1190I; 17:50677935-50677935	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4133G>T; p.G1378V; 17:50684728-50684728	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3576C>A; p.N1192K; 17:50677941-50677941	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2481A>G; p.G827G; 17:50673540-50673540	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2476G>A; p.D826N; 17:50673535-50673535	skin	malignant_melanoma	Substitution - Missense
c.3576C>A; p.N1192K; 17:50677941-50677941	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.198C>T; p.L66L; 17:50655984-50655984	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.693C>A; p.Y231*; 17:50659255-50659255	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.2170C>T; p.L724L; 17:50669457-50669457	skin	malignant_melanoma	Substitution - coding silent
c.693C>A; p.Y231*; 17:50659255-50659255	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4193C>T; p.A1398V; 17:50684788-50684788	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4071C>T; p.I1357I; 17:50684065-50684065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3320G>A; p.S1107N; 17:50676530-50676530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1482C>T; p.I494I; 17:50667604-50667604	skin	malignant_melanoma	Substitution - coding silent
c.1065G>T; p.L355L; 17:50663747-50663747	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4415T>C; p.F1472S; 17:50687670-50687670	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1975G>A; p.V659M; 17:50669177-50669177	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4265G>A; p.G1422D; 17:50684860-50684860	skin; arm	malignant_melanoma	Substitution - Missense
c.641T>C; p.F214S; 17:50658463-50658463	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3450_3451insT; p.S1152fs*20; 17:50677815-50677816	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2336C>T; p.S779F; 17:50673065-50673065	skin	malignant_melanoma	Substitution - Missense
c.1318G>A; p.A440T; 17:50664091-50664091	NS	malignant_melanoma	Substitution - Missense
c.4182C>T; p.D1394D; 17:50684777-50684777	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1318G>A; p.A440T; 17:50664091-50664091	NS	malignant_melanoma	Substitution - Missense
c.1548C>A; p.G516G; 17:50667670-50667670	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.862C>T; p.L288L; 17:50660978-50660978	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.862C>T; p.L288L; 17:50660978-50660978	liver	carcinoma	Substitution - coding silent
c.1915G>T; p.D639Y; 17:50668897-50668897	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.3890G>A; p.R1297H; 17:50683692-50683692	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3890G>A; p.R1297H; 17:50683692-50683692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.153C>T; p.C51C; 17:50655939-50655939	central_nervous_system; brain	glioma	Substitution - coding silent
c.4292G>A; p.R1431K; 17:50687547-50687547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4292G>A; p.R1431K; 17:50687547-50687547	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3730A>G; p.I1244V; 17:50679822-50679822	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4043G>A; p.R1348H; 17:50684037-50684037	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.790G>A; p.E264K; 17:50659352-50659352	skin	malignant_melanoma	Substitution - Missense
c.79G>A; p.D27N; 17:50655865-50655865	skin	malignant_melanoma	Substitution - Missense
c.2714+2T>C; p.?; 17:50675478-50675478	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.3774G>A; p.E1258E; 17:50679866-50679866	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3560C>G; p.P1187R; 17:50677925-50677925	breast	carcinoma	Substitution - Missense
c.1693G>T; p.A565S; 17:50667920-50667920	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1260C>A; p.F420L; 17:50664033-50664033	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3964G>A; p.V1322M; 17:50683958-50683958	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1693G>T; p.A565S; 17:50667920-50667920	pancreas	carcinoma	Substitution - Missense
c.1519G>T; p.E507*; 17:50667641-50667641	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3131T>A; p.L1044*; 17:50676341-50676341	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1159G>A; p.G387S; 17:50663841-50663841	skin	malignant_melanoma	Substitution - Missense
c.4142G>A; p.R1381H; 17:50684737-50684737	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2273G>A; p.R758Q; 17:50673002-50673002	breast	carcinoma	Substitution - Missense
c.2403A>C; p.A801A; 17:50673132-50673132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4565G>C; p.R1522T; 17:50691181-50691181	oesophagus	carcinoma	Substitution - Missense
c.3480C>G; p.V1160V; 17:50677845-50677845	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2389G>A; p.E797K; 17:50673118-50673118	skin	malignant_melanoma	Substitution - Missense
c.3643G>A; p.V1215I; 17:50678157-50678157	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3762C>T; p.I1254I; 17:50679854-50679854	skin	malignant_melanoma	Substitution - coding silent
c.1152G>T; p.G384G; 17:50663834-50663834	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3630T>C; p.A1210A; 17:50678144-50678144	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation