Entrez Gene

Basic Information
Gene ID	1947
Name	EFNB1
Synonymous	ephrin-B1;EFNB1;ephrin-B1
Definition	ELK ligand\|eph-related receptor tyrosine kinase ligand 2
Position	Xq12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.920G>A; p.R307Q; 23:68840533-68840533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.554C>T; p.A185V; 23:68840014-68840014	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.762C>T; p.I254I; 23:68840375-68840375	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.863C>T; p.P288L; 23:68840476-68840476	skin	malignant_melanoma	Substitution - Missense
c.217_218delTA; p.Y73fs*1; 23:68838705-68838706	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.583G>T; p.A195S; 23:68840043-68840043	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.689C>T; p.P230L; 23:68840302-68840302	urinary_tract; bladder	carcinoma	Substitution - Missense
c.464C>G; p.T155R; 23:68839721-68839721	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.292T>C; p.L98L; 23:68838780-68838780	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.289G>A; p.V97M; 23:68838777-68838777	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.726G>A; p.A242A; 23:68840339-68840339	thyroid	carcinoma	Substitution - coding silent
c.864C>T; p.P288P; 23:68840477-68840477	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.921G>A; p.R307R; 23:68840534-68840534	skin	malignant_melanoma	Substitution - coding silent
c.161C>T; p.P54L; 23:68838649-68838649	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.738C>T; p.A246A; 23:68840351-68840351	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.738C>T; p.A246A; 23:68840351-68840351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.738C>T; p.A246A; 23:68840351-68840351	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.732C>T; p.V244V; 23:68840345-68840345	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.776C>T; p.T259M; 23:68840389-68840389	liver	carcinoma	Substitution - Missense
c.776C>T; p.T259M; 23:68840389-68840389	liver	carcinoma	Substitution - Missense
c.776C>T; p.T259M; 23:68840389-68840389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.781C>T; p.L261L; 23:68840394-68840394	skin	malignant_melanoma	Substitution - coding silent
c.790A>T; p.K264*; 23:68840403-68840403	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1004C>T; p.P335L; 23:68840617-68840617	urinary_tract; bladder	carcinoma	Substitution - Missense
c.796C>T; p.R266C; 23:68840409-68840409	breast	carcinoma	Substitution - Missense
c.796C>T; p.R266C; 23:68840409-68840409	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.923C>T; p.T308I; 23:68840536-68840536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.804G>A; p.R268R; 23:68840417-68840417	breast	carcinoma	Substitution - coding silent
c.325C>T; p.R109C; 23:68838813-68838813	pancreas	carcinoma	Substitution - Missense
c.871G>A; p.G291S; 23:68840484-68840484	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.459C>T; p.C153C; 23:68839716-68839716	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.575C>T; p.A192V; 23:68840035-68840035	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.866_867insG; p.S292fs*27; 23:68840479-68840480	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.212G>A; p.R71Q; 23:68838700-68838700	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.215C>A; p.P72H; 23:68838703-68838703	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.990C>T; p.I330I; 23:68840603-68840603	skin	malignant_melanoma	Substitution - coding silent
c.993C>T; p.V331V; 23:68840606-68840606	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.724G>A; p.A242T; 23:68840337-68840337	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.724G>A; p.A242T; 23:68840337-68840337	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.211C>G; p.R71G; 23:68838699-68838699	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.707_714delCCAAGGTG; p.S236fs*80; 23:68840320-68840327	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.508G>T; p.A170S; 23:68839968-68839968	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.508G>T; p.A170S; 23:68839968-68839968	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.467G>A; p.R156H; 23:68839724-68839724	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.436G>A; p.E146K; 23:68839693-68839693	skin	malignant_melanoma	Substitution - Missense
c.867delG; p.G291fs*30; 23:68840480-68840480	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.443G>A; p.R148Q; 23:68839700-68839700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.211C>T; p.R71W; 23:68838699-68838699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.216C>T; p.P72P; 23:68838704-68838704	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.765C>A; p.I255I; 23:68840378-68840378	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.900C>T; p.S300S; 23:68840513-68840513	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.245G>A; p.R82Q; 23:68838733-68838733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.466C>A; p.R156S; 23:68839723-68839723	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.595C>T; p.R199W; 23:68840055-68840055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]