EPHA1

EPH receptor A1

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 is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]

Known Variants92 total

rsidPosition (GRCh37)AllelesClassClinVar
rs563077017:143,088,592G/A—benign
rs3682975017:143,088,597C/T—uncertain significance
rs617329987:143,088,605G/A—uncertain significance
rs7654740607:143,088,758G/A—uncertain significance
rs7529004137:143,088,760G/C—uncertain significance
rs7817806177:143,088,780G/A—uncertain significance
rs24855756167:143,088,810A/G—likely benign
rs7510013447:143,088,824G/A—uncertain significance
rs7489057127:143,088,858G/A—uncertain significance
rs24855757947:143,088,863G/A—uncertain significance
rs1483881927:143,090,785G/A—uncertain significance
rs3706033217:143,090,791A/G—uncertain significance
rs561248467:143,090,844G/A—benign
rs3740978417:143,090,852G/A—uncertain significance
rs13711800687:143,090,857G/C—uncertain significance
rs1999295577:143,090,861G/A—uncertain significance
rs24855800467:143,091,298T/A—uncertain significance
rs18051770817:143,091,364C/T—uncertain significance
rs7759336087:143,091,388G/A—uncertain significance
rs7663013337:143,091,418G/A—uncertain significance
rs14903328587:143,091,432C/G—uncertain significance
rs2003020667:143,091,446C/T—likely benign
rs24855817827:143,092,017C/T—uncertain significance
rs1451602357:143,092,424C/T—likely benign
rs24855827907:143,092,430C/T—uncertain significance
rs1407003297:143,092,447G/A—uncertain significance
rs7776367417:143,092,497C/G—uncertain significance
rs13757901787:143,092,510G/T—uncertain significance
rs5649554297:143,093,012A/G——
rs11902180897:143,093,501A/G—uncertain significance
rs13923287457:143,093,523C/G—uncertain significance
rs2000185587:143,093,526G/A—uncertain significance
rs7543971317:143,093,559C/T—uncertain significance
rs11842937587:143,094,387C/T—likely benign
rs1999816647:143,094,390G/A—benign
rs5555873767:143,094,423C/T—uncertain significance
rs7802880317:143,094,445G/A—uncertain significance
rs7657263817:143,094,657G/A—uncertain significance
rs7769470097:143,094,660C/T—uncertain significance
rs5355098877:143,094,715C/T—likely benign
rs17064471807:143,095,132G/A—uncertain significance
rs7648517957:143,095,141A/G—uncertain significance
rs2019445317:143,095,461G/C—uncertain significance
rs7488790347:143,095,508T/A—uncertain significance
rs7668653277:143,095,768G/A—uncertain significance
rs1402362367:143,095,849G/A—uncertain significance
rs7609452867:143,095,892C/T—uncertain significance
rs1493701677:143,095,907C/T—uncertain significance
rs12407358687:143,095,990T/C—uncertain significance
rs1438724127:143,096,005G/C—uncertain significance
rs617329917:143,096,025G/A—benign
rs18053486667:143,096,364C/G—uncertain significance
rs558743557:143,096,400C/T—benign
rs1395803327:143,096,475C/T—uncertain significance
rs9313462177:143,096,477T/C—likely benign
rs1499232167:143,096,736G/A—benign
rs7781107837:143,096,756C/T—likely benign
rs7797960937:143,096,779C/T—uncertain significance
rs7684806267:143,096,783G/A—uncertain significance
rs2012097207:143,096,797C/T—likely benign
rs7478453577:143,096,872C/T—likely benign
rs7642640427:143,096,889G/A—likely benign
rs1999884137:143,096,891T/A—uncertain significance
rs2019443157:143,096,951C/T—uncertain significance
rs24855938297:143,096,973C/G—uncertain significance
rs7458102147:143,097,047G/A—uncertain significance
rs7601801287:143,097,055C/T—likely benign
rs7512264037:143,097,088A/G—uncertain significance
rs7798852337:143,097,109C/T—uncertain significance
rs1504260077:143,097,116T/C—uncertain significance
rs7700720247:143,098,433C/T—uncertain significance
rs7593672927:143,098,506G/A—uncertain significance
rs7602278167:143,098,542C/T—uncertain significance
rs18054144367:143,098,544G/C—uncertain significance
rs7619222967:143,098,560C/T—uncertain significance
rs2012285747:143,098,566C/G—uncertain significance
rs1407288687:143,098,567G/A—likely benign
rs454472977:143,098,568C/T—uncertain significance
rs1441466357:143,098,584C/T—uncertain significance
rs1486535127:143,098,586C/T—uncertain significance
rs18054181047:143,098,593T/A—uncertain significance
rs1421918157:143,098,598T/C—uncertain significance
rs747219277:143,098,605G/A—uncertain significance
rs1181298347:143,098,636C/A—uncertain significance
rs7783718387:143,098,662G/T—uncertain significance
rs1392387317:143,098,665G/T—uncertain significance
rs39350677:143,104,331G/Cupstream gene variant—
rs14671909357:143,105,826C/A—uncertain significance
rs795876077:143,105,828C/T—benign
rs127035247:143,105,830A/C—benign
rs14628230877:143,105,840G/T—uncertain significance
rs18056355827:143,105,856G/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.