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

Gene information from NCBI Gene. Variant classifications from ClinVar.