Entrez Gene

Basic Information
Gene ID	11149
Name	BVES
Synonymous	blood vessel epicardial substance;BVES;blood vessel epicardial substance
Definition	popeye domain containing 1\|popeye domain-containing protein 1\|popeye protein 1
Position	6q21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3G>T; p.M1I; 6:105133575-105133575	urinary_tract; bladder	carcinoma	Substitution - Missense
c.783C>T; p.L261L; 6:105116734-105116734	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.931C>T; p.R311W; 6:105115713-105115713	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.781C>A; p.L261I; 6:105116736-105116736	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.618A>G; p.S206S; 6:105124577-105124577	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1043C>T; p.P348L; 6:105101129-105101129	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.311A>G; p.N104S; 6:105129419-105129419	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.816+1G>T; p.?; 6:105116700-105116700	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.679T>A; p.F227I; 6:105116838-105116838	NS	NS	Substitution - Missense
c.851G>A; p.C284Y; 6:105115793-105115793	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.980G>A; p.R327Q; 6:105101192-105101192	skin	malignant_melanoma	Substitution - Missense
c.780G>A; p.K260K; 6:105116737-105116737	liver	carcinoma	Substitution - coding silent
c.161T>G; p.V54G; 6:105133417-105133417	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.980G>A; p.R327Q; 6:105101192-105101192	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.161T>G; p.V54G; 6:105133417-105133417	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.161T>G; p.V54G; 6:105133417-105133417	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.796G>T; p.D266Y; 6:105116721-105116721	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.129G>T; p.L43L; 6:105133449-105133449	breast	carcinoma	Substitution - coding silent
c.397G>A; p.E133K; 6:105125533-105125533	breast	carcinoma	Substitution - Missense
c.744C>A; p.I248I; 6:105116773-105116773	pancreas	carcinoma	Substitution - coding silent
c.294T>G; p.S98S; 6:105129436-105129436	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.683T>G; p.L228*; 6:105116834-105116834	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.334T>C; p.L112L; 6:105129396-105129396	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.649-6T>C; p.?; 6:105116874-105116874	liver	carcinoma	Unknown
c.350C>T; p.P117L; 6:105129380-105129380	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1058C>T; p.T353I; 6:105101114-105101114	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.451A>T; p.M151L; 6:105125479-105125479	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.722C>T; p.S241L; 6:105116795-105116795	skin	malignant_melanoma	Substitution - Missense
c.766G>T; p.D256Y; 6:105116751-105116751	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1044G>A; p.P348P; 6:105101128-105101128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.642A>G; p.K214K; 6:105124553-105124553	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.835C>T; p.H279Y; 6:105115809-105115809	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.959-2A>C; p.?; 6:105101215-105101215	prostate	carcinoma	Unknown
c.417A>G; p.P139P; 6:105125513-105125513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.482A>G; p.Y161C; 6:105125448-105125448	central_nervous_system; brain	glioma	Substitution - Missense
c.465G>A; p.L155L; 6:105125465-105125465	skin	malignant_melanoma	Substitution - coding silent
c.526C>A; p.L176I; 6:105125404-105125404	breast	carcinoma	Substitution - Missense
c.226+7T>A; p.?; 6:105133345-105133345	kidney	other; neoplasm	Unknown
c.450C>T; p.C150C; 6:105125480-105125480	liver	carcinoma	Substitution - coding silent
c.881A>G; p.N294S; 6:105115763-105115763	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.108C>G; p.N36K; 6:105133470-105133470	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.677G>T; p.R226I; 6:105116840-105116840	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.760G>A; p.G254R; 6:105116757-105116757	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.461C>T; p.T154I; 6:105125469-105125469	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1015G>T; p.A339S; 6:105101157-105101157	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.703T>C; p.L235L; 6:105116814-105116814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.871G>A; p.E291K; 6:105115773-105115773	skin	malignant_melanoma	Substitution - Missense
c.800C>A; p.P267H; 6:105116717-105116717	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.367G>A; p.E123K; 6:105125563-105125563	pancreas	carcinoma	Substitution - Missense
c.797A>T; p.D266V; 6:105116720-105116720	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.331C>A; p.L111I; 6:105129399-105129399	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.75A>T; p.I25I; 6:105133503-105133503	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.423G>A; p.L141L; 6:105125507-105125507	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.645C>T; p.F215F; 6:105124550-105124550	skin	malignant_melanoma	Substitution - coding silent
c.944G>A; p.S315N; 6:105115700-105115700	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.144A>G; p.A48A; 6:105133434-105133434	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.470A>G; p.K157R; 6:105125460-105125460	prostate	carcinoma	Substitution - Missense
c.828G>C; p.K276N; 6:105115816-105115816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.958C>T; p.H320Y; 6:105115686-105115686	skin	malignant_melanoma	Substitution - Missense
c.575A>G; p.N192S; 6:105124620-105124620	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.389G>A; p.R130Q; 6:105125541-105125541	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1001C>T; p.P334L; 6:105101171-105101171	pancreas	carcinoma	Substitution - Missense
c.701G>A; p.R234K; 6:105116816-105116816	skin	malignant_melanoma	Substitution - Missense
c.529T>A; p.L177M; 6:105125401-105125401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.262C>T; p.R88*; 6:105129468-105129468	skin	malignant_melanoma	Substitution - Nonsense
c.262C>T; p.R88*; 6:105129468-105129468	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.941C>T; p.S314F; 6:105115703-105115703	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.262C>T; p.R88*; 6:105129468-105129468	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.300C>T; p.F100F; 6:105129430-105129430	skin	malignant_melanoma	Substitution - coding silent
c.267T>C; p.C89C; 6:105129463-105129463	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8A>T; p.Y3F; 6:105133570-105133570	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.111G>C; p.W37C; 6:105133467-105133467	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1021G>C; p.D341H; 6:105101151-105101151	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1003A>G; p.I335V; 6:105101169-105101169	pancreas	carcinoma	Substitution - Missense
c.875T>C; p.M292T; 6:105115769-105115769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.511G>T; p.D171Y; 6:105125419-105125419	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.741A>C; p.E247D; 6:105116776-105116776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.480T>G; p.T160T; 6:105125450-105125450	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.847C>T; p.L283F; 6:105115797-105115797	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.386G>A; p.R129Q; 6:105125544-105125544	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.9T>G; p.Y3*; 6:105133569-105133569	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.345G>T; p.K115N; 6:105129385-105129385	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.796G>A; p.D266N; 6:105116721-105116721	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]