EPHA2

EPH receptor A2

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. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010]

Known Variants289 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs181703453	1:16,450,865	C/T	—	uncertain significance
rs371642899	1:16,450,920	G/A	—	uncertain significance
rs111512184	1:16,450,968	A/T	—	benign
rs78569898	1:16,450,996	C/T	—	benign
rs146367469	1:16,451,042	C/A	—	benign
rs139754494	1:16,451,051	A/T	—	benign
rs886045502	1:16,451,085	C/T	—	uncertain significance
rs886045503	1:16,451,086	G/A	—	uncertain significance
rs2024433310	1:16,451,167	G/A	—	uncertain significance
rs144559615	1:16,451,200	C/T	—	benign
rs113810531	1:16,451,267	A/G	—	benign
rs41269181	1:16,451,350	C/T	—	benign
rs140956748	1:16,451,355	T/C	—	benign
rs1803527	1:16,451,413	T/C	—	benign
rs537231128	1:16,451,426	G/A	—	uncertain significance
rs1208362952	1:16,451,437	C/T	—	uncertain significance
rs886045504	1:16,451,486	C/A	—	uncertain significance
rs112600002	1:16,451,497	G/A	—	benign
rs11543935	1:16,451,544	C/T	—	benign
rs114895977	1:16,451,722	C/T	—	benign
rs138818894	1:16,451,737	C/G	—	conflicting classifications of pathogenicity
rs142825252	1:16,451,743	C/T	—	likely benign
rs139787163	1:16,451,766	C/T	—	conflicting classifications of pathogenicity
rs3754334	1:16,451,767	G/A	synonymous variant	benign
rs2024443095	1:16,451,769	T/C	—	uncertain significance
rs765001639	1:16,451,771	C/T	—	uncertain significance
rs2524523011	1:16,451,777	T/G	—	uncertain significance
rs137853199	1:16,451,799	C/A	missense variant	pathogenic
rs1369958686	1:16,451,814	C/T	—	uncertain significance
rs143828420	1:16,451,815	G/A	—	conflicting classifications of pathogenicity
rs886041412	1:16,451,824	C/T	—	pathogenic
rs114053114	1:16,451,876	G/A	—	benign
rs566528356	1:16,451,950	C/T	—	likely benign
rs72887916	1:16,452,057	G/A	—	likely benign
rs115862421	1:16,455,681	G/T	—	likely benign
rs77811513	1:16,455,819	A/G	—	benign
rs116602887	1:16,455,857	G/A	—	likely benign
rs137853200	1:16,455,935	G/A	missense variant	pathogenic
rs774131290	1:16,455,954	C/T	—	uncertain significance
rs562985602	1:16,455,989	G/A	—	uncertain significance
rs775490586	1:16,456,011	A/G	—	uncertain significance
rs903033191	1:16,456,018	C/A	—	uncertain significance
rs376030072	1:16,456,023	C/T	—	uncertain significance
rs140726562	1:16,456,024	G/A	—	benign
rs2024534953	1:16,456,029	C/T	—	uncertain significance
rs753191229	1:16,456,035	G/A	—	uncertain significance
rs1490236886	1:16,456,052	G/A	—	uncertain significance
rs749180343	1:16,456,057	G/A	—	uncertain significance
rs768602571	1:16,456,060	C/T	—	likely benign
rs376803353	1:16,456,061	G/A	—	conflicting classifications of pathogenicity
rs747921529	1:16,456,072	C/T	—	likely benign
rs139168333	1:16,456,083	C/T	—	likely benign
rs115803694	1:16,456,155	C/T	—	likely benign
rs3768294	1:16,456,176	G/A	—	benign
rs115905560	1:16,456,645	G/A	—	likely benign
rs138168734	1:16,456,728	C/T	—	uncertain significance
rs776257223	1:16,456,756	A/G	—	likely benign
rs35903225	1:16,456,763	C/T	missense variant	benign
rs1044969836	1:16,456,791	T/C	—	uncertain significance
rs139225059	1:16,456,811	C/T	—	likely benign
rs35586310	1:16,456,876	T/C	—	benign
rs2524543353	1:16,456,914	C/A	—	uncertain significance
rs374463695	1:16,456,919	C/T	—	benign
rs112363312	1:16,457,031	G/A	—	benign
rs114580482	1:16,457,200	T/C	—	likely benign
rs111320795	1:16,458,089	T/A	—	benign
rs59377363	1:16,458,187	A/G	—	benign
rs2291806	1:16,458,218	C/T	missense variant	—
rs145425916	1:16,458,219	G/A	—	likely benign
rs143247718	1:16,458,228	C/T	—	benign
rs534750274	1:16,458,236	A/C	—	likely benign
rs199875761	1:16,458,294	G/A	—	uncertain significance
rs55869078	1:16,458,317	G/A	—	uncertain significance
rs749294736	1:16,458,323	A/C	—	uncertain significance
rs766078852	1:16,458,338	C/T	—	likely pathogenic
rs112285834	1:16,458,339	G/A	—	benign
rs922655349	1:16,458,362	C/T	—	uncertain significance
rs757876769	1:16,458,363	G/T	—	uncertain significance
rs781762535	1:16,458,369	C/T	—	likely benign
rs145592908	1:16,458,645	C/T	—	conflicting classifications of pathogenicity
rs145981210	1:16,458,646	G/A	—	likely benign
rs2124200644	1:16,458,649	G/A	—	likely benign
rs372578793	1:16,458,666	G/A	—	likely benign
rs2024583180	1:16,458,710	G/C	—	uncertain significance
rs372191320	1:16,458,715	G/A	—	likely benign
rs116506614	1:16,458,722	C/T	missense variant	pathogenic
rs2024583634	1:16,458,735	C/T	—	uncertain significance
rs2124201142	1:16,458,739	C/A	—	uncertain significance
rs372553014	1:16,458,773	C/T	—	uncertain significance
rs765586631	1:16,458,774	G/A	—	likely benign
rs753038083	1:16,458,777	G/A	—	likely benign
rs2291805	1:16,458,814	T/C	—	benign
rs28394876	1:16,458,848	C/T	—	benign
rs749155445	1:16,458,874	C/T	—	uncertain significance
rs768514997	1:16,458,875	G/A	—	uncertain significance
rs141594918	1:16,458,888	C/T	—	benign
rs149080726	1:16,458,891	G/A	—	benign
rs11578289	1:16,459,507	T/A	—	benign
rs74054923	1:16,459,637	C/T	—	benign
rs2230598	1:16,459,694	T/C	—	benign

Showing 100 of 289 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.