EPHA4

EPH receptor A4

Summary

This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

Known Variants200 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1689892062	2:222,290,749	C/G	—	uncertain significance
rs141387215	2:222,290,753	C/T	—	uncertain significance
rs747438072	2:222,290,759	C/G	—	uncertain significance
rs2469176188	2:222,290,767	C/A	—	uncertain significance
rs141897098	2:222,290,788	G/A	—	uncertain significance
rs202216669	2:222,290,792	G/A	—	uncertain significance
rs757397148	2:222,290,794	A/G	—	uncertain significance
rs372990795	2:222,290,817	C/T	—	benign
rs35860178	2:222,290,829	T/C	—	benign
rs758611672	2:222,290,832	G/T	—	likely benign
rs747243818	2:222,290,834	T/C	—	uncertain significance
rs35341687	2:222,290,851	C/G	—	uncertain significance
rs201675912	2:222,290,870	T/C	—	likely benign
rs202180511	2:222,290,875	C/T	—	likely benign
rs761557412	2:222,290,876	G/A	—	likely benign
rs201040727	2:222,291,194	C/T	—	conflicting classifications of pathogenicity
rs560424392	2:222,291,195	G/T	—	uncertain significance
rs2469177434	2:222,291,236	A/G	—	uncertain significance
rs2106089087	2:222,291,247	T/C	—	uncertain significance
rs2469177487	2:222,291,257	T/C	—	uncertain significance
rs148626608	2:222,291,279	G/A	—	likely benign
rs2469177554	2:222,291,284	C/T	—	uncertain significance
rs377085774	2:222,291,317	G/T	—	uncertain significance
rs61731200	2:222,291,333	G/C	—	benign
rs188379183	2:222,294,660	T/C	—	likely benign
rs930615257	2:222,294,668	C/T	—	likely benign
rs760466873	2:222,294,683	G/C	—	uncertain significance
rs767587519	2:222,294,684	C/G	—	uncertain significance
rs371830529	2:222,294,689	C/T	—	likely benign
rs142860268	2:222,294,690	G/A	—	uncertain significance
rs756889351	2:222,294,756	A/T	—	uncertain significance
rs1056023957	2:222,294,792	T/C	—	uncertain significance
rs762036708	2:222,294,812	C/G	—	likely benign
rs199889377	2:222,294,813	G/A	—	uncertain significance
rs764568007	2:222,294,816	A/G	—	uncertain significance
rs752075336	2:222,294,835	G/C	—	uncertain significance
rs780716002	2:222,294,838	G/A	—	uncertain significance
rs768620299	2:222,294,857	A/G	—	likely benign
rs200832595	2:222,298,898	G/A	—	likely benign
rs542900826	2:222,298,901	C/T	—	likely benign
rs1273295450	2:222,298,944	C/T	—	uncertain significance
rs1690163243	2:222,298,947	G/C	—	uncertain significance
rs914099718	2:222,298,962	C/T	—	uncertain significance
rs141789136	2:222,298,982	C/G	—	likely benign
rs772762078	2:222,298,983	G/A	—	uncertain significance
rs199606862	2:222,298,992	C/T	—	uncertain significance
rs78592838	2:222,299,024	G/A	—	benign
rs143826461	2:222,301,099	A/T	—	benign
rs202113758	2:222,301,106	C/G	—	benign
rs369988785	2:222,301,107	G/A	—	likely benign
rs146308796	2:222,301,125	G/A	—	likely benign
rs2469193375	2:222,301,134	T/G	—	likely benign
rs1260836606	2:222,301,135	G/C	—	uncertain significance
rs56159060	2:222,301,160	G/T	—	likely benign
rs2469193438	2:222,301,161	G/A	—	likely benign
rs139882071	2:222,301,179	C/T	—	likely benign
rs139589907	2:222,301,220	C/T	—	uncertain significance
rs1553568456	2:222,301,223	C/T	—	likely pathogenic
rs769432864	2:222,301,241	A/G	—	uncertain significance
rs200282869	2:222,301,252	G/C	—	uncertain significance
rs761654406	2:222,301,265	T/C	—	uncertain significance
rs370645355	2:222,301,315	C/A	—	uncertain significance
rs758696335	2:222,301,333	A/G	—	likely benign
rs372660980	2:222,301,345	T/C	—	likely benign
rs374279858	2:222,301,761	A/C	—	likely benign
rs758544317	2:222,301,808	C/T	—	likely benign
rs751734937	2:222,301,834	C/G	—	uncertain significance
rs56099808	2:222,302,405	T/G	intron variant	—
rs368730521	2:222,307,533	G/C	—	likely benign
rs2288628	2:222,307,534	G/T	—	benign
rs558863612	2:222,307,545	G/A	—	uncertain significance
rs754610340	2:222,307,572	T/C	—	uncertain significance
rs201199748	2:222,307,577	G/A	—	likely benign
rs113258181	2:222,307,583	C/T	—	likely benign
rs1187109573	2:222,307,677	C/T	—	uncertain significance
rs2469205043	2:222,307,696	G/A	—	uncertain significance
rs147566564	2:222,307,707	C/T	—	uncertain significance
rs904777556	2:222,307,708	G/A	—	uncertain significance
rs747724977	2:222,307,712	A/G	—	likely benign
rs2469205183	2:222,307,739	G/A	—	likely benign
rs1440536178	2:222,308,195	G/A	—	likely benign
rs181206080	2:222,308,197	A/C	—	likely benign
rs10498111	2:222,308,226	T/C	—	benign
rs1690494593	2:222,308,235	C/T	—	likely benign
rs200216848	2:222,308,295	G/A	—	likely benign
rs755954200	2:222,308,306	G/T	—	uncertain significance
rs1449965656	2:222,308,329	G/A	—	uncertain significance
rs774855923	2:222,310,900	G/A	—	uncertain significance
rs2469210175	2:222,310,903	T/C	—	uncertain significance
rs889141426	2:222,310,912	T/A	—	likely benign
rs766053625	2:222,310,918	A/T	—	likely benign
rs3770186	2:222,312,339	A/T	regulatory region variant	—
rs3770180	2:222,314,415	A/G	intron variant	—
rs3770179	2:222,314,432	C/G	intron variant	—
rs541333943	2:222,320,253	G/A	—	likely benign
rs768964879	2:222,320,321	G/A	—	likely benign
rs779294936	2:222,320,339	A/T	—	uncertain significance
rs868844423	2:222,321,336	T/C	—	uncertain significance
rs61743680	2:222,321,340	G/C	—	likely benign
rs1690962352	2:222,321,363	T/C	—	uncertain significance

Showing 100 of 200 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.