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	538
Symbol	ATP7A
Synonymous	DSMAX\|MK\|MNK\|SMAX3
Full name	ATPase, Cu++ transporting, alpha polypeptide
Gene description	Cu++-transporting P-type ATPase\|Menkes disease-associated protein\|copper pump 1\|copper-transporting ATPase 1
Cytoband	Xq21.1
Gene type	protein-coding
Synonymous	MIM:300011; HGNC:HGNC:869; Ensembl:ENSG00000165240; HPRD:02054; Vega:OTTHUMG00000021885

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1455G>A; p.K485K; 23:77998596-77998596	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1997G>C; p.G666A; 23:78011499-78011499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3801+2T>C; p.?; 23:78040735-78040735	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2029C>A; p.H677N; 23:78011531-78011531	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2774C>T; p.T925I; 23:78020391-78020391	pancreas	carcinoma	Substitution - Missense
c.1306G>T; p.E436*; 23:77989928-77989928	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2619C>T; p.L873L; 23:78015874-78015874	breast	carcinoma	Substitution - coding silent
c.2293C>T; p.L765F; 23:78012999-78012999	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1403A>T; p.N468I; 23:77998544-77998544	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2968C>T; p.Q990*; 23:78029301-78029301	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1403A>T; p.N468I; 23:77998544-77998544	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1146C>T; p.N382N; 23:77989768-77989768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2538T>A; p.D846E; 23:78015793-78015793	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1558C>A; p.L520I; 23:78003087-78003087	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.421G>A; p.E141K; 23:77988542-77988542	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4432G>A; p.V1478I; 23:78046499-78046499	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.637A>G; p.I213V; 23:77989259-77989259	liver	carcinoma	Substitution - Missense
c.637A>G; p.I213V; 23:77989259-77989259	liver	carcinoma	Substitution - Missense
c.2957G>A; p.R986Q; 23:78029290-78029290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3541C>A; p.L1181I; 23:78038865-78038865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2929A>G; p.S977G; 23:78029262-78029262	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1258G>C; p.E420Q; 23:77989880-77989880	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2957G>A; p.R986Q; 23:78029290-78029290	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.487C>T; p.H163Y; 23:77988608-77988608	skin	malignant_melanoma	Substitution - Missense
c.1688A>G; p.D563G; 23:78003217-78003217	central_nervous_system; brainstem	glioma; oligoastrocytoma_Grade_III	Substitution - Missense
c.3577C>A; p.L1193I; 23:78038901-78038901	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2446C>A; p.Q816K; 23:78014701-78014701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1235T>C; p.L412P; 23:77989857-77989857	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1221C>T; p.S407S; 23:77989843-77989843	skin	malignant_melanoma	Substitution - coding silent
c.2715A>G; p.T905T; 23:78020332-78020332	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4025T>G; p.V1342G; 23:78043336-78043336	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3302A>G; p.D1101G; 23:78033612-78033612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3082G>T; p.G1028C; 23:78029415-78029415	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1534C>T; p.R512W; 23:77998675-77998675	skin	malignant_melanoma	Substitution - Missense
c.1534C>T; p.R512W; 23:77998675-77998675	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1292T>C; p.L431S; 23:77989914-77989914	breast	carcinoma	Substitution - Missense
c.2692G>T; p.G898W; 23:78020309-78020309	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.133G>T; p.E45*; 23:77988254-77988254	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1059T>A; p.S353R; 23:77989681-77989681	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3896T>G; p.V1299G; 23:78042679-78042679	breast	carcinoma	Substitution - Missense
c.1662T>A; p.T554T; 23:78003191-78003191	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1019C>T; p.P340L; 23:77989641-77989641	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3564G>A; p.M1188I; 23:78038888-78038888	breast	carcinoma	Substitution - Missense
c.3929C>A; p.A1310E; 23:78042712-78042712	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1024C>T; p.L342L; 23:77989646-77989646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.890G>A; p.S297N; 23:77989512-77989512	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.513C>T; p.V171V; 23:77988634-77988634	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1729T>C; p.S577P; 23:78009123-78009123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2862G>T; p.L954F; 23:78021025-78021025	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4271G>A; p.S1424N; 23:78046338-78046338	skin	malignant_melanoma	Substitution - Missense
c.1490T>C; p.M497T; 23:77998631-77998631	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4027G>T; p.A1343S; 23:78043338-78043338	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.824A>G; p.N275S; 23:77989446-77989446	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3241G>A; p.E1081K; 23:78031529-78031529	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.766A>C; p.K256Q; 23:77989388-77989388	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2286G>A; p.L762L; 23:78012992-78012992	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1379A>G; p.E460G; 23:77998520-77998520	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2862G>A; p.L954L; 23:78021025-78021025	skin	malignant_melanoma	Substitution - coding silent
c.446A>G; p.D149G; 23:77988567-77988567	skin	malignant_melanoma	Substitution - Missense
c.2799T>G; p.F933L; 23:78020962-78020962	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.446A>G; p.D149G; 23:77988567-77988567	skin	malignant_melanoma	Substitution - Missense
c.3485C>A; p.S1162Y; 23:78033795-78033795	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.371C>A; p.T124N; 23:77988492-77988492	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3946A>G; p.I1316V; 23:78042729-78042729	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1758C>T; p.L586L; 23:78009152-78009152	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1721C>T; p.T574M; 23:78009115-78009115	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3721C>T; p.H1241Y; 23:78040653-78040653	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1721C>T; p.T574M; 23:78009115-78009115	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1565C>T; p.A522V; 23:78003094-78003094	liver	carcinoma	Substitution - Missense
c.1536G>T; p.R512R; 23:77998677-77998677	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1565C>T; p.A522V; 23:78003094-78003094	liver	carcinoma	Substitution - Missense
c.1565C>T; p.A522V; 23:78003094-78003094	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1866T>G; p.I622M; 23:78009260-78009260	skin	malignant_melanoma	Substitution - Missense
c.2149delT; p.L718fs*22; 23:78011651-78011651	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.314G>A; p.S105N; 23:77988435-77988435	breast	carcinoma	Substitution - Missense
c.2607A>G; p.V869V; 23:78015862-78015862	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2090C>A; p.S697Y; 23:78011592-78011592	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3801G>T; p.Q1267H; 23:78040733-78040733	pancreas	other; adenoma	Substitution - Missense
c.3155G>T; p.G1052V; 23:78031443-78031443	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4169C>A; p.S1390Y; 23:78045515-78045515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4194T>C; p.V1398V; 23:78045540-78045540	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2944G>A; p.E982K; 23:78029277-78029277	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4161G>A; p.W1387*; 23:78045507-78045507	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2713A>G; p.T905A; 23:78020330-78020330	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2939G>A; p.R980Q; 23:78029272-78029272	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1642G>T; p.E548*; 23:78003171-78003171	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.492T>C; p.S164S; 23:77988613-77988613	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.756A>G; p.V252V; 23:77989378-77989378	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1903G>T; p.D635Y; 23:78011209-78011209	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.492T>C; p.S164S; 23:77988613-77988613	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3347G>T; p.G1116V; 23:78033657-78033657	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1199C>T; p.S400L; 23:77989821-77989821	breast	carcinoma	Substitution - Missense
c.3883C>T; p.R1295W; 23:78042666-78042666	large_intestine; colon	adenoma	Substitution - Missense
c.3883C>T; p.R1295W; 23:78042666-78042666	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3909C>A; p.I1303I; 23:78042692-78042692	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3933G>T; p.M1311I; 23:78042716-78042716	liver	carcinoma	Substitution - Missense
c.457C>T; p.L153L; 23:77988578-77988578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4105G>T; p.G1369*; 23:78043416-78043416	skin	malignant_melanoma	Substitution - Nonsense
c.527A>G; p.K176R; 23:77988648-77988648	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.519G>A; p.L173L; 23:77988640-77988640	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.480T>C; p.C160C; 23:77988601-77988601	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.443T>C; p.L148S; 23:77988564-77988564	liver	carcinoma	Substitution - Missense
c.443T>C; p.L148S; 23:77988564-77988564	liver	carcinoma	Substitution - Missense
c.3877G>T; p.G1293W; 23:78042660-78042660	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4414C>T; p.R1472C; 23:78046481-78046481	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1023G>A; p.G341G; 23:77989645-77989645	skin	malignant_melanoma	Substitution - coding silent
c.3061C>T; p.Q1021*; 23:78029394-78029394	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2346C>T; p.D782D; 23:78013052-78013052	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2115T>C; p.I705I; 23:78011617-78011617	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1594T>C; p.Y532H; 23:78003123-78003123	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.973T>A; p.S325T; 23:77989595-77989595	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4138A>G; p.I1380V; 23:78045484-78045484	skin	malignant_melanoma	Substitution - Missense
c.3316G>T; p.G1106C; 23:78033626-78033626	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4372A>G; p.N1458D; 23:78046439-78046439	skin	malignant_melanoma	Substitution - Missense
c.1778T>C; p.L593P; 23:78009172-78009172	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3967G>A; p.D1323N; 23:78042750-78042750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1012G>T; p.V338L; 23:77989634-77989634	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4076T>C; p.F1359S; 23:78043387-78043387	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4076T>C; p.F1359S; 23:78043387-78043387	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1610T>C; p.I537T; 23:78003139-78003139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.843C>T; p.F281F; 23:77989465-77989465	skin	malignant_melanoma	Substitution - coding silent
c.3050G>C; p.G1017A; 23:78029383-78029383	large_intestine; rectum	NS	Substitution - Missense
c.3042G>T; p.V1014V; 23:78029375-78029375	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.705A>C; p.P235P; 23:77989327-77989327	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1621A>T; p.M541L; 23:78003150-78003150	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.386T>C; p.I129T; 23:77988507-77988507	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4246G>A; p.E1416K; 23:78046313-78046313	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1290G>A; p.T430T; 23:77989912-77989912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2953A>G; p.I985V; 23:78029286-78029286	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.551C>T; p.S184L; 23:77988672-77988672	skin	malignant_melanoma	Substitution - Missense
c.3720C>T; p.I1240I; 23:78040652-78040652	skin	malignant_melanoma	Substitution - coding silent
c.4278A>G; p.I1426M; 23:78046345-78046345	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1019C>A; p.P340Q; 23:77989641-77989641	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.218C>A; p.A73D; 23:77988339-77988339	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2093C>G; p.S698C; 23:78011595-78011595	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1377G>A; p.S459S; 23:77998518-77998518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2541C>T; p.I847I; 23:78015796-78015796	skin	malignant_melanoma	Substitution - coding silent
c.3039G>T; p.M1013I; 23:78029372-78029372	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.217G>A; p.A73T; 23:77988338-77988338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3128T>C; p.F1043S; 23:78031416-78031416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2843T>C; p.V948A; 23:78021006-78021006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.771C>T; p.N257N; 23:77989393-77989393	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4323T>C; p.D1441D; 23:78046390-78046390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.525G>T; p.M175I; 23:77988646-77988646	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2354C>A; p.P785H; 23:78013060-78013060	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3619G>A; p.E1207K; 23:78038943-78038943	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.1906C>T; p.R636W; 23:78011212-78011212	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4305C>T; p.S1435S; 23:78046372-78046372	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2071G>T; p.E691*; 23:78011573-78011573	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4017G>A; p.L1339L; 23:78043328-78043328	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1934G>A; p.R645Q; 23:78011240-78011240	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1386G>A; p.P462P; 23:77998527-77998527	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.133_134insA; p.N47fs*7; 23:77988254-77988255	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Insertion - Frameshift
c.4287G>C; p.K1429N; 23:78046354-78046354	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2072delA; p.M692fs*1; 23:78011574-78011574	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4373A>G; p.N1458S; 23:78046440-78046440	liver	carcinoma	Substitution - Missense
c.3659-2A>G; p.?; 23:78040589-78040589	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.3104C>T; p.A1035V; 23:78029437-78029437	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.832A>C; p.T278P; 23:77989454-77989454	breast	carcinoma	Substitution - Missense
c.123A>C; p.V41V; 23:77988244-77988244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3816G>T; p.K1272N; 23:78042599-78042599	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.334G>A; p.G112S; 23:77988455-77988455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1522C>T; p.R508W; 23:77998663-77998663	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3433G>C; p.A1145P; 23:78033743-78033743	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2254C>A; p.L752M; 23:78012960-78012960	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3316G>C; p.G1106R; 23:78033626-78033626	breast	carcinoma	Substitution - Missense
c.791A>T; p.E264V; 23:77989413-77989413	pancreas	carcinoma	Substitution - Missense
c.1573G>A; p.A525T; 23:78003102-78003102	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3715G>T; p.A1239S; 23:78040647-78040647	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.388A>G; p.I130V; 23:77988509-77988509	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2949G>A; p.T983T; 23:78029282-78029282	pancreas	carcinoma	Substitution - coding silent
c.4067G>A; p.R1356Q; 23:78043378-78043378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2949G>A; p.T983T; 23:78029282-78029282	pancreas	carcinoma	Substitution - coding silent
c.2188T>A; p.Y730N; 23:78012894-78012894	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2949G>A; p.T983T; 23:78029282-78029282	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.392C>T; p.P131L; 23:77988513-77988513	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2949G>A; p.T983T; 23:78029282-78029282	pancreas	carcinoma	Substitution - coding silent
c.1535G>T; p.R512L; 23:77998676-77998676	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2140T>G; p.L714V; 23:78011642-78011642	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2473C>T; p.L825F; 23:78014728-78014728	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3928G>T; p.A1310S; 23:78042711-78042711	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3511+1G>A; p.?; 23:78033822-78033822	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1655G>A; p.G552E; 23:78003184-78003184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3928G>T; p.A1310S; 23:78042711-78042711	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.351A>C; p.K117N; 23:77988472-77988472	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.648A>G; p.Q216Q; 23:77989270-77989270	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.761G>A; p.R254H; 23:77989383-77989383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.939G>T; p.E313D; 23:77989561-77989561	breast	carcinoma	Substitution - Missense
c.282G>A; p.A94A; 23:77988403-77988403	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.583A>T; p.K195*; 23:77988704-77988704	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3499G>A; p.A1167T; 23:78033809-78033809	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1233C>T; p.S411S; 23:77989855-77989855	skin	malignant_melanoma	Substitution - coding silent
c.278C>T; p.T93M; 23:77988399-77988399	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3556G>C; p.E1186Q; 23:78038880-78038880	ovary	other; neoplasm	Substitution - Missense
c.1100C>A; p.P367H; 23:77989722-77989722	pancreas	carcinoma	Substitution - Missense
c.3621G>C; p.E1207D; 23:78038945-78038945	breast	carcinoma	Substitution - Missense
c.1100C>A; p.P367H; 23:77989722-77989722	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3876delG; p.K1294fs*3; 23:78042659-78042659	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1364C>A; p.A455D; 23:77998505-77998505	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1491G>C; p.M497I; 23:77998632-77998632	breast	carcinoma	Substitution - Missense
c.2628G>C; p.G876G; 23:78020245-78020245	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4421T>A; p.L1474Q; 23:78046488-78046488	skin	malignant_melanoma	Substitution - Missense
c.1789G>A; p.V597M; 23:78009183-78009183	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2383C>T; p.R795*; 23:78013089-78013089	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4397C>A; p.S1466*; 23:78046464-78046464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4252T>G; p.Y1418D; 23:78046319-78046319	central_nervous_system; brain	glioma	Substitution - Missense
c.2085T>C; p.L695L; 23:78011587-78011587	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.180G>C; p.K60N; 23:77988301-77988301	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2500G>T; p.E834*; 23:78015755-78015755	pancreas	carcinoma	Substitution - Nonsense
c.2500G>T; p.E834*; 23:78015755-78015755	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.1611A>G; p.I537M; 23:78003140-78003140	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3980A>G; p.E1327G; 23:78042763-78042763	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.602G>T; p.R201L; 23:77988723-77988723	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.368G>T; p.R123I; 23:77988489-77988489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1849G>A; p.D617N; 23:78009243-78009243	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1869+8C>G; p.?; 23:78009271-78009271	prostate	carcinoma	Unknown
c.3751G>A; p.V1251I; 23:78040683-78040683	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1192G>T; p.V398F; 23:77989814-77989814	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1210G>T; p.G404C; 23:77989832-77989832	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2116C>T; p.L706F; 23:78011618-78011618	skin	malignant_melanoma	Substitution - Missense
c.333G>A; p.K111K; 23:77988454-77988454	skin	malignant_melanoma	Substitution - coding silent
c.3658+6G>T; p.?; 23:78038988-78038988	liver	carcinoma	Unknown
c.2432A>G; p.K811R; 23:78014687-78014687	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3412G>A; p.E1138K; 23:78033722-78033722	breast	carcinoma	Substitution - Missense
c.541A>G; p.T181A; 23:77988662-77988662	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.3626A>G; p.K1209R; 23:78038950-78038950	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3626A>G; p.K1209R; 23:78038950-78038950	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4005+4A>G; p.?; 23:78042792-78042792	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.239C>A; p.P80H; 23:77988360-77988360	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.868T>C; p.S290P; 23:77989490-77989490	breast	carcinoma	Substitution - Missense
c.2299G>C; p.V767L; 23:78013005-78013005	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.27T>C; p.S9S; 23:77971668-77971668	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2299G>C; p.V767L; 23:78013005-78013005	thyroid	other; neoplasm	Substitution - Missense
c.1735G>A; p.V579I; 23:78009129-78009129	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1623G>A; p.M541I; 23:78003152-78003152	skin	malignant_melanoma	Substitution - Missense
c.3200G>T; p.R1067I; 23:78031488-78031488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2275G>A; p.A759T; 23:78012981-78012981	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3479C>T; p.S1160L; 23:78033789-78033789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1876G>C; p.G626R; 23:78011182-78011182	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1487G>A; p.G496D; 23:77998628-77998628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2197A>G; p.I733V; 23:78012903-78012903	breast	carcinoma	Substitution - Missense
c.1252A>C; p.T418P; 23:77989874-77989874	skin	malignant_melanoma	Substitution - Missense
c.2795A>G; p.Q932R; 23:78020958-78020958	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2968_2969insA; p.A991fs*47; 23:78029301-78029302	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2295_2296insCTA; p.L765_L766insL; 23:78013001-78013002	breast	carcinoma	Insertion - In frame
c.1314G>T; p.M438I; 23:77989936-77989936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1341G>A; p.T447T; 23:77998482-77998482	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1220C>T; p.S407F; 23:77989842-77989842	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.617T>A; p.L206Q; 23:77989239-77989239	pancreas	carcinoma	Substitution - Missense
c.617T>A; p.L206Q; 23:77989239-77989239	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1341G>A; p.T447T; 23:77998482-77998482	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.989C>T; p.S330F; 23:77989611-77989611	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation