Entrez Gene

Basic Information
Gene ID	1909
Name	EDNRA

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.1230C>T; p.H410H; 4:147542564-147542564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1145C>T; p.S382L; 4:147542479-147542479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.173T>C; p.V58A; 4:147485854-147485854	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.662C>T; p.A221V; 4:147532619-147532619	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.854G>C; p.R285T; 4:147535983-147535983	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1016A>C; p.N339T; 4:147539932-147539932	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1213A>G; p.I405V; 4:147542547-147542547	skin	malignant_melanoma	Substitution - Missense
c.137G>A; p.S46N; 4:147485818-147485818	skin	malignant_melanoma	Substitution - Missense
c.943T>G; p.F315V; 4:147539859-147539859	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.504_505GG>CT; p.S168>?; 4:147519934-147519935	lung	carcinoma; adenocarcinoma	Complex
c.969T>C; p.H323H; 4:147539885-147539885	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4G>A; p.E2K; 4:147485685-147485685	skin	malignant_melanoma	Substitution - Missense
c.613G>A; p.E205K; 4:147532570-147532570	skin	malignant_melanoma	Substitution - Missense
c.918A>C; p.K306N; 4:147539834-147539834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1169A>G; p.Q390R; 4:147542503-147542503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.354G>A; p.L118L; 4:147486035-147486035	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.27C>T; p.S9S; 4:147485708-147485708	skin	malignant_melanoma	Substitution - coding silent
c.757G>A; p.D253N; 4:147535886-147535886	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.448C>T; p.H150Y; 4:147519878-147519878	liver	carcinoma	Substitution - Missense
c.1231G>A; p.D411N; 4:147542565-147542565	skin	malignant_melanoma	Substitution - Missense
c.904C>T; p.R302*; 4:147539820-147539820	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1249A>C; p.T417P; 4:147542583-147542583	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1249A>C; p.T417P; 4:147542583-147542583	pancreas	carcinoma	Substitution - Missense
c.6A>C; p.E2D; 4:147485687-147485687	skin	malignant_melanoma	Substitution - Missense
c.1249A>C; p.T417P; 4:147542583-147542583	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1213A>T; p.I405F; 4:147542547-147542547	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.126C>A; p.G42G; 4:147485807-147485807	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.613G>T; p.E205*; 4:147532570-147532570	breast	carcinoma	Substitution - Nonsense
c.584G>A; p.G195E; 4:147532541-147532541	skin	malignant_melanoma	Substitution - Missense
c.1030C>A; p.L344I; 4:147539946-147539946	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.430G>T; p.G144W; 4:147519860-147519860	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.280G>T; p.G94*; 4:147485961-147485961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.757G>T; p.D253Y; 4:147535886-147535886	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.831C>A; p.L277L; 4:147535960-147535960	liver	carcinoma	Substitution - coding silent
c.831C>A; p.L277L; 4:147535960-147535960	liver	carcinoma	Substitution - coding silent
c.441T>G; p.P147P; 4:147519871-147519871	skin	malignant_melanoma	Substitution - coding silent
c.121C>T; p.R41C; 4:147485802-147485802	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.121C>T; p.R41C; 4:147485802-147485802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.121C>T; p.R41C; 4:147485802-147485802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1059C>T; p.I353I; 4:147540401-147540401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.655C>A; p.P219T; 4:147532612-147532612	pancreas	carcinoma	Substitution - Missense
c.504G>T; p.S168S; 4:147519934-147519934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.284T>G; p.M95R; 4:147485965-147485965	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.799C>T; p.P267S; 4:147535928-147535928	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.116C>A; p.T39N; 4:147485797-147485797	urinary_tract; bladder	carcinoma	Substitution - Missense
c.645C>T; p.I215I; 4:147532602-147532602	skin	malignant_melanoma	Substitution - coding silent
c.318C>T; p.Y106Y; 4:147485999-147485999	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.346A>G; p.N116D; 4:147486027-147486027	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.809G>A; p.C270Y; 4:147535938-147535938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.731C>T; p.T244I; 4:147532688-147532688	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.731C>T; p.T244I; 4:147532688-147532688	stomach	adenocarcinoma	Substitution - Missense
c.486C>T; p.P162P; 4:147519916-147519916	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.528C>T; p.L176L; 4:147519958-147519958	skin	malignant_melanoma	Substitution - coding silent
c.772T>G; p.W258G; 4:147535901-147535901	breast	carcinoma	Substitution - Missense
c.962C>G; p.P321R; 4:147539878-147539878	liver	carcinoma	Substitution - Missense
c.1019G>A; p.R340Q; 4:147539935-147539935	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.962C>G; p.P321R; 4:147539878-147539878	liver	carcinoma	Substitution - Missense
c.1019G>A; p.R340Q; 4:147539935-147539935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.977G>A; p.R326H; 4:147539893-147539893	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.532G>A; p.A178T; 4:147519962-147519962	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.532G>A; p.A178T; 4:147519962-147519962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.433C>T; p.R145C; 4:147519863-147519863	breast	carcinoma	Substitution - Missense
c.433C>T; p.R145C; 4:147519863-147519863	breast	carcinoma	Substitution - Missense
c.893T>G; p.L298R; 4:147536022-147536022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.276C>T; p.I92I; 4:147485957-147485957	skin	malignant_melanoma	Substitution - coding silent
c.351G>T; p.A117A; 4:147486032-147486032	central_nervous_system; brain	glioma	Substitution - coding silent
c.276C>T; p.I92I; 4:147485957-147485957	skin	malignant_melanoma	Substitution - coding silent
c.255G>A; p.V85V; 4:147485936-147485936	skin	malignant_melanoma	Substitution - coding silent
c.1180C>T; p.L394L; 4:147542514-147542514	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.857G>A; p.R286K; 4:147535986-147535986	skin	malignant_melanoma	Substitution - Missense
c.1004A>T; p.E335V; 4:147539920-147539920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1005G>A; p.E335E; 4:147539921-147539921	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.469C>A; p.L157I; 4:147519899-147519899	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.826A>G; p.T276A; 4:147535955-147535955	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.545A>G; p.D182G; 4:147519975-147519975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.393C>T; p.V131V; 4:147486074-147486074	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.350C>T; p.A117V; 4:147486031-147486031	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.603A>T; p.V201V; 4:147532560-147532560	skin	malignant_melanoma	Substitution - coding silent
c.658G>A; p.E220K; 4:147532615-147532615	skin; neck	malignant_melanoma	Substitution - Missense
c.1018C>T; p.R340*; 4:147539934-147539934	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.795T>A; p.C265*; 4:147535924-147535924	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1269G>T; p.K423N; 4:147542603-147542603	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.975C>T; p.S325S; 4:147539891-147539891	skin	malignant_melanoma	Substitution - coding silent
c.703C>G; p.Q235E; 4:147532660-147532660	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1033A>G; p.S345G; 4:147539949-147539949	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1061G>A; p.G354D; 4:147540403-147540403	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1096C>T; p.P366S; 4:147540438-147540438	pancreas	carcinoma	Substitution - Missense
c.316T>C; p.Y106H; 4:147485997-147485997	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1003G>A; p.E335K; 4:147539919-147539919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.314T>G; p.I105S; 4:147485995-147485995	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.827C>A; p.T276N; 4:147535956-147535956	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.949C>A; p.L317I; 4:147539865-147539865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.408C>A; p.I136I; 4:147486089-147486089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.408C>A; p.I136I; 4:147486089-147486089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.580C>T; p.Q194*; 4:147532537-147532537	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.406A>C; p.I136L; 4:147486087-147486087	breast	carcinoma	Substitution - Missense
c.406A>C; p.I136L; 4:147486087-147486087	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.352C>T; p.L118L; 4:147486033-147486033	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.122G>A; p.R41H; 4:147485803-147485803	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1203C>T; p.N401N; 4:147542537-147542537	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1203C>T; p.N401N; 4:147542537-147542537	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.672C>T; p.F224F; 4:147532629-147532629	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1190C>T; p.S397L; 4:147542524-147542524	skin	malignant_melanoma	Substitution - Missense

The somatic mutations from COSMIC database