EPCAM

epithelial cell adhesion molecule

Summary

This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]

Known Variants542 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs72882759	2:47,596,144	C/G	—	benign
rs78212572	2:47,596,200	A/G	—	likely benign
rs371271353	2:47,596,398	G/C	—	likely benign
rs376344699	2:47,596,453	G/T	—	uncertain significance
rs528859440	2:47,596,547	C/G	—	likely benign
rs886056131	2:47,596,566	C/T	—	uncertain significance
rs533255660	2:47,596,644	C/G	—	not provided
rs752808238	2:47,596,645	A/G	—	likely pathogenic
rs2465443167	2:47,596,647	G/C	—	pathogenic
rs201402370	2:47,596,649	C/T	—	likely benign
rs374563131	2:47,596,650	G/T	—	likely benign
rs587780772	2:47,596,651	C/T	—	uncertain significance
rs1368213809	2:47,596,652	C/T	—	uncertain significance
rs532872105	2:47,596,653	C/A	—	likely benign
rs778641299	2:47,596,655	C/T	—	uncertain significance
rs2103737953	2:47,596,656	G/T	—	likely benign
rs747738988	2:47,596,657	C/T	—	pathogenic
rs867177667	2:47,596,660	G/A	—	likely benign
rs2103737976	2:47,596,662	C/T	—	likely benign
rs2103737980	2:47,596,663	C/G	—	uncertain significance
rs878854486	2:47,596,664	T/A	—	uncertain significance
rs878854487	2:47,596,665	C/T	—	likely benign
rs1274512381	2:47,596,667	C/G	—	uncertain significance
rs777677935	2:47,596,668	G/T	—	likely benign
rs1435104298	2:47,596,671	C/T	—	likely benign
rs863224709	2:47,596,672	G/A	—	uncertain significance
rs1454427043	2:47,596,674	G/A	—	likely benign
rs746990000	2:47,596,678	C/A	—	uncertain significance
rs771025657	2:47,596,680	G/C	—	likely benign
rs776646187	2:47,596,682	T/C	—	uncertain significance
rs1444994616	2:47,596,685	C/T	—	uncertain significance
rs1573389266	2:47,596,686	C/G	—	likely benign
rs2103738134	2:47,596,689	G/A	—	likely benign
rs1304699926	2:47,596,690	G/A	—	uncertain significance
rs1228140225	2:47,596,691	C/G	—	uncertain significance
rs116429842	2:47,596,694	C/T	—	uncertain significance
rs769754089	2:47,596,695	G/A	—	likely benign
rs2103738184	2:47,596,696	G/A	—	uncertain significance
rs2103738194	2:47,596,698	G/C	—	likely benign
rs2465443454	2:47,596,704	T/C	—	likely benign
rs1671161598	2:47,596,706	C/T	—	uncertain significance
rs549177672	2:47,596,707	C/G	—	likely benign
rs2103738227	2:47,596,708	G/A	—	uncertain significance
rs894237303	2:47,596,709	C/T	—	uncertain significance
rs2103738233	2:47,596,710	A/C	—	likely benign
rs1671161764	2:47,596,711	G/A	—	uncertain significance
rs763055107	2:47,596,715	A/G	—	uncertain significance
rs1168138313	2:47,596,716	G/C	—	uncertain significance
rs1385489500	2:47,596,717	G/T	—	pathogenic
rs878854494	2:47,596,718	A/T	—	uncertain significance
rs2103738272	2:47,596,719	A/C	—	uncertain significance
rs764492954	2:47,596,720	G/A	—	uncertain significance
rs863224712	2:47,596,725	G/A	—	uncertain significance
rs774722931	2:47,596,726	G/T	—	likely benign
rs762123721	2:47,596,741	G/C	—	benign
rs538922283	2:47,596,868	C/T	—	likely benign
rs869312585	2:47,597,221	C/T	—	likely benign
rs869312587	2:47,597,331	C/T	—	likely benign
rs796885914	2:47,600,351	A/C	—	benign
rs113124279	2:47,600,354	A/C	—	benign
rs796540128	2:47,600,357	A/C	—	benign
rs796101767	2:47,600,358	A/C	—	benign
rs866410675	2:47,600,360	A/C	—	benign
rs528210519	2:47,600,366	A/C	—	benign
rs199855976	2:47,600,370	A/C	—	likely benign
rs114241106	2:47,600,591	T/A	—	benign
rs755113500	2:47,600,600	A/G	—	pathogenic
rs2103745491	2:47,600,603	A/G	—	likely benign
rs2103745496	2:47,600,604	T/G	—	uncertain significance
rs1198261971	2:47,600,605	G/A	—	uncertain significance
rs1671335376	2:47,600,607	G/A	—	likely benign
rs1056538153	2:47,600,609	C/G	—	likely benign
rs2465455028	2:47,600,613	G/A	—	uncertain significance
rs778932754	2:47,600,614	A/G	—	uncertain significance
rs1671335679	2:47,600,615	A/C	—	uncertain significance
rs555329870	2:47,600,618	C/G	—	likely benign
rs896120924	2:47,600,619	T/A	—	uncertain significance
rs1671335988	2:47,600,620	A/G	—	uncertain significance
rs878854498	2:47,600,624	G/A	—	likely benign
rs1347318798	2:47,600,627	G/A	—	likely benign
rs141751351	2:47,600,628	G/A	—	conflicting classifications of pathogenicity
rs747879855	2:47,600,630	C/T	—	likely benign
rs771315207	2:47,600,631	G/A	—	benign
rs201251927	2:47,600,633	A/G	—	likely benign
rs543584983	2:47,600,636	C/G	—	uncertain significance
rs774024869	2:47,600,641	T/G	—	uncertain significance
rs372660671	2:47,600,643	G/A	—	likely benign
rs750032094	2:47,600,648	T/A	—	uncertain significance
rs1671337489	2:47,600,649	A/G	—	uncertain significance
rs864622433	2:47,600,650	A/G	—	uncertain significance
rs2103745705	2:47,600,653	A/G	—	uncertain significance
rs2103745712	2:47,600,654	T/C	—	likely benign
rs1008677622	2:47,600,655	C/T	—	uncertain significance
rs538099447	2:47,600,656	G/T	—	uncertain significance
rs878854485	2:47,600,658	C/T	stop gained	pathogenic
rs372142268	2:47,600,659	A/T	—	uncertain significance
rs72882770	2:47,600,660	A/G	—	likely benign
rs2103745754	2:47,600,661	T/A	—	uncertain significance
rs1573393378	2:47,600,663	C/T	—	likely benign
rs186094931	2:47,600,666	G/A	—	likely benign

Showing 100 of 542 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.