Entrez Gene

Basic Information
Gene ID	2719
Name	GPC3

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.1160G>A; p.R387Q; 23:133699901-133699901	skin	malignant_melanoma	Substitution - Missense
c.490G>C; p.D164H; 23:133754024-133754024	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.490G>C; p.D164H; 23:133754024-133754024	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.865G>T; p.V289L; 23:133753649-133753649	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1065C>A; p.R355R; 23:133699996-133699996	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.865G>T; p.V289L; 23:133753649-133753649	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1199G>T; p.S400I; 23:133692462-133692462	breast	carcinoma	Substitution - Missense
c.675C>A; p.V225V; 23:133753839-133753839	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1254C>T; p.N418N; 23:133692407-133692407	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1531G>A; p.D511N; 23:133596482-133596482	skin	malignant_melanoma	Substitution - Missense
c.1742G>A; p.581; 23:133536125-133536125	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1202T>C; p.F401S; 23:133692459-133692459	skin	malignant_melanoma	Substitution - Missense
c.326C>T; p.A109V; 23:133953061-133953061	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.503A>G; p.N168S; 23:133754011-133754011	skin	malignant_melanoma	Substitution - Missense
c.90G>A; p.P30P; 23:133985360-133985360	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.90G>A; p.P30P; 23:133985360-133985360	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1691T>G; p.L564R; 23:133536176-133536176	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1611A>T; p.G537G; 23:133536256-133536256	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.935G>T; p.R312I; 23:133753579-133753579	central_nervous_system; brain	glioma	Substitution - Missense
c.1430C>A; p.S477Y; 23:133596583-133596583	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.114C>T; p.V38V; 23:133985336-133985336	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.779G>C; p.W260S; 23:133753735-133753735	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1423A>G; p.T475A; 23:133596590-133596590	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.76C>A; p.P26T; 23:133985374-133985374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.598G>T; p.G200*; 23:133753916-133753916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1712C>T; p.S571L; 23:133536155-133536155	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1061_1063delAAC; p.Q354delQ; 23:133699998-133700000	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.1555C>T; p.Q519*; 23:133596458-133596458	skin	malignant_melanoma	Substitution - Nonsense
c.358C>T; p.R120C; 23:133754156-133754156	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.127C>T; p.Q43*; 23:133985323-133985323	skin	malignant_melanoma	Substitution - Nonsense
c.1494C>T; p.C498C; 23:133596519-133596519	liver	carcinoma	Substitution - coding silent
c.1504G>A; p.E502K; 23:133596509-133596509	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1339C>T; p.L447F; 23:133661804-133661804	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.441A>T; p.E147D; 23:133754073-133754073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.557G>C; p.G186A; 23:133753957-133753957	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.302A>G; p.K101R; 23:133953085-133953085	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.892G>T; p.E298*; 23:133753622-133753622	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.892G>T; p.E298*; 23:133753622-133753622	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.606A>G; p.R202R; 23:133753908-133753908	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1682C>T; p.P561L; 23:133536185-133536185	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1159C>G; p.R387G; 23:133699902-133699902	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.335A>C; p.Q112P; 23:133953052-133953052	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.327G>A; p.A109A; 23:133953060-133953060	central_nervous_system; brain	glioma	Substitution - coding silent
c.788C>T; p.S263F; 23:133753726-133753726	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.381T>C; p.N127N; 23:133754133-133754133	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.864_866delTGT; p.V290delV; 23:133753648-133753650	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.589T>A; p.C197S; 23:133753925-133753925	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1704G>A; p.M568I; 23:133536163-133536163	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1681C>T; p.P561S; 23:133536186-133536186	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.901C>A; p.L301M; 23:133753613-133753613	breast	carcinoma	Substitution - Missense
c.601G>A; p.A201T; 23:133753913-133753913	skin	malignant_melanoma	Substitution - Missense
c.795C>G; p.C265W; 23:133753719-133753719	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1008G>T; p.K336N; 23:133753506-133753506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.707G>A; p.G236E; 23:133753807-133753807	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.333C>G; p.F111L; 23:133953054-133953054	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.498G>A; p.M166I; 23:133754016-133754016	skin	malignant_melanoma	Substitution - Missense
c.78C>T; p.P26P; 23:133985372-133985372	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.399C>T; p.N133N; 23:133754115-133754115	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.490G>A; p.D164N; 23:133754024-133754024	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.217T>C; p.C73R; 23:133953170-133953170	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.800G>A; p.G267E; 23:133753714-133753714	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.439G>A; p.E147K; 23:133754075-133754075	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.1732C>T; p.L578L; 23:133536135-133536135	skin	malignant_melanoma	Substitution - coding silent
c.1177C>T; p.Q393*; 23:133692484-133692484	skin	malignant_melanoma	Substitution - Nonsense
c.1516A>T; p.I506F; 23:133596497-133596497	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.592C>T; p.L198F; 23:133753922-133753922	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1064G>A; p.R355H; 23:133699997-133699997	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.573C>A; p.A191A; 23:133753941-133753941	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.843C>A; p.V281V; 23:133753671-133753671	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.843C>A; p.V281V; 23:133753671-133753671	breast	carcinoma	Substitution - coding silent
c.338-8_338-5delTTTT; p.?; 23:133754181-133754184	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.1642G>A; p.E548K; 23:133536225-133536225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.910G>T; p.E304*; 23:133753604-133753604	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1642G>A; p.E548K; 23:133536225-133536225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1143A>T; p.E381D; 23:133699918-133699918	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1190C>A; p.S397Y; 23:133692471-133692471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1247C>T; p.A416V; 23:133692414-133692414	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.760C>T; p.R254*; 23:133753754-133753754	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.136C>T; p.Q46*; 23:133985314-133985314	liver	carcinoma	Substitution - Nonsense
c.136C>T; p.Q46*; 23:133985314-133985314	liver	carcinoma	Substitution - Nonsense
c.595C>T; p.R199*; 23:133753919-133753919	skin	malignant_melanoma	Substitution - Nonsense
c.595C>T; p.R199*; 23:133753919-133753919	breast	carcinoma	Substitution - Nonsense
c.196C>A; p.L66I; 23:133953191-133953191	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.656T>C; p.V219A; 23:133753858-133753858	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.646A>G; p.M216V; 23:133753868-133753868	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.793T>C; p.C265R; 23:133753721-133753721	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1498G>A; p.D500N; 23:133596515-133596515	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1029C>T; p.T343T; 23:133753485-133753485	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1314G>A; p.R438R; 23:133661829-133661829	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.726A>G; p.T242T; 23:133753788-133753788	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1468G>A; p.E490K; 23:133596545-133596545	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1739A>T; p.H580L; 23:133536128-133536128	prostate	carcinoma	Substitution - Missense
c.563C>A; p.P188H; 23:133753951-133753951	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.771C>T; p.T257T; 23:133753743-133753743	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1130A>G; p.H377R; 23:133699931-133699931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.336A>T; p.Q112H; 23:133953051-133953051	kidney	other; neoplasm	Substitution - Missense
c.1658A>C; p.H553P; 23:133536209-133536209	skin	malignant_melanoma	Substitution - Missense
c.369G>T; p.K123N; 23:133754145-133754145	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.121T>G; p.F41V; 23:133985329-133985329	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1037G>T; p.G346V; 23:133700024-133700024	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.825C>T; p.G275G; 23:133753689-133753689	central_nervous_system; brain	glioma	Substitution - coding silent
c.1330C>T; p.Q444*; 23:133661813-133661813	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1477T>G; p.F493V; 23:133596536-133596536	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.418C>A; p.Q140K; 23:133754096-133754096	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.211A>G; p.T71A; 23:133953176-133953176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.826G>A; p.G276S; 23:133753688-133753688	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.169G>A; p.V57M; 23:133985281-133985281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1341C>A; p.L447L; 23:133661802-133661802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.199C>A; p.P67T; 23:133953188-133953188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.596G>A; p.R199Q; 23:133753918-133753918	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.949G>A; p.E317K; 23:133753565-133753565	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.596G>A; p.R199Q; 23:133753918-133753918	breast	carcinoma	Substitution - Missense
c.1448T>G; p.V483G; 23:133596565-133596565	stomach	adenocarcinoma	Substitution - Missense
c.482T>A; p.I161N; 23:133754032-133754032	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.16C>T; p.R6C; 23:133985434-133985434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1671C>T; p.N557N; 23:133536196-133536196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.362A>G; p.H121R; 23:133754152-133754152	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1726T>G; p.F576V; 23:133536141-133536141	skin	malignant_melanoma	Substitution - Missense
c.198C>T; p.L66L; 23:133953189-133953189	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1524C>T; p.G508G; 23:133596489-133596489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1093G>T; p.D365Y; 23:133699968-133699968	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1450C>T; p.L484L; 23:133596563-133596563	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1194C>T; p.F398F; 23:133692467-133692467	skin	malignant_melanoma	Substitution - coding silent
c.652C>T; p.Q218*; 23:133753862-133753862	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1430C>T; p.S477F; 23:133596583-133596583	skin; shoulder	malignant_melanoma	Substitution - Missense
c.1454A>T; p.D485V; 23:133596559-133596559	skin	malignant_melanoma	Substitution - Missense
c.1630C>T; p.P544S; 23:133536237-133536237	skin	malignant_melanoma	Substitution - Missense
c.1453G>A; p.D485N; 23:133596560-133596560	skin	malignant_melanoma	Substitution - Missense

The somatic mutations from COSMIC database