EPS8L3

EPS8 signaling adaptor L3

Summary

This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

Known Variants53 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7650711961:110,293,370C/T—likely benign
rs1481851761:110,293,386C/T—likely benign
rs10533829951:110,293,403G/A—uncertain significance
rs764254311:110,293,943C/T—likely benign
rs7510795121:110,293,947C/A—uncertain significance
rs7791991611:110,293,965C/T—uncertain significance
rs7782040161:110,294,277C/T—uncertain significance
rs343013641:110,294,396G/A—benign
rs771846131:110,294,642G/T—uncertain significance
rs1488236101:110,294,651C/T—likely benign
rs7627027841:110,294,673C/T—uncertain significance
rs3747003731:110,294,693A/G—uncertain significance
rs11689312621:110,294,717C/A—uncertain significance
rs14265404601:110,294,725C/T—likely benign
rs1396207331:110,295,774A/C—uncertain significance
rs7560325571:110,299,676G/T—uncertain significance
rs1397678141:110,299,677G/T—uncertain significance
rs3730291201:110,299,682T/C—uncertain significance
rs111020011:110,299,691G/Amissense variant—
rs764772261:110,299,777C/G—uncertain significance
rs14526150151:110,300,118G/T—uncertain significance
rs7661195021:110,300,473G/A—uncertain significance
rs9329905511:110,300,482A/G—uncertain significance
rs15579957421:110,300,569C/T—uncertain significance
rs7479803151:110,300,668G/A—uncertain significance
rs1502452801:110,300,958C/G—uncertain significance
rs3726416621:110,300,994A/G—uncertain significance
rs1383441331:110,301,012C/T—uncertain significance
rs7797431181:110,301,024G/A—uncertain significance
rs25247822461:110,301,029A/G—uncertain significance
rs25247850541:110,301,178G/A—uncertain significance
rs3739742731:110,301,190G/A—uncertain significance
rs14425433541:110,301,221G/A—uncertain significance
rs14449556471:110,301,241C/T—uncertain significance
rs25247871601:110,301,244C/A—uncertain significance
rs15706966391:110,301,257G/A—uncertain significance
rs21014921931:110,301,265T/A—uncertain significance
rs25247958551:110,301,695C/G—uncertain significance
rs3683824841:110,301,701C/A—uncertain significance
rs11572416341:110,301,736C/G—benign
rs7574066571:110,301,909G/A—uncertain significance
rs7662904751:110,302,333G/A—likely benign
rs3764971751:110,302,344G/T—uncertain significance
rs2021748921:110,302,370C/T—uncertain significance
rs5629286371:110,302,371G/A—uncertain significance
rs7552196861:110,302,413C/T—likely benign
rs7744191011:110,302,448G/A—uncertain significance
rs175983211:110,302,450C/T—benign
rs1387327191:110,302,574T/Cregulatory region variant—
rs3746067511:110,304,154A/G—uncertain significance
rs3690952331:110,304,167A/G—uncertain significance
rs16509874351:110,304,350C/T—uncertain significance
rs3684799781:110,304,524A/G——

Gene information from NCBI Gene. Variant classifications from ClinVar.