EPB41L1

erythrocyte membrane protein band 4.1 like 1

Summary

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

Known Variants128 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14060494220:34,711,092G/Aregulatory region variant—
rs614160020:34,712,310T/Cdownstream gene variant—
rs251682066620:34,713,382G/A—uncertain significance
rs214770950520:34,713,450G/A—uncertain significance
rs614251720:34,725,101A/Gintron variant—
rs19137144520:34,756,906T/Cintron variant—
rs77756351420:34,761,721G/A—uncertain significance
rs76879362720:34,761,756G/A—uncertain significance
rs14073142120:34,761,810C/T—likely benign
rs14589346220:34,761,811G/A—uncertain significance
rs251559048320:34,761,822G/T—uncertain significance
rs75818992520:34,761,828C/G—uncertain significance
rs214589936620:34,761,829T/C—uncertain significance
rs251559098620:34,761,832A/G—uncertain significance
rs37140527720:34,761,860C/T—uncertain significance
rs95360244720:34,763,483T/C—uncertain significance
rs120314635720:34,763,492A/G—uncertain significance
rs19112872420:34,763,508C/T—likely benign
rs54355236620:34,763,519C/T—likely benign
rs206119343220:34,763,535C/A—likely benign
rs37564970920:34,763,614T/G—likely benign
rs36939762320:34,765,868C/T—likely benign
rs612117620:34,765,884G/A—uncertain significance
rs160076250820:34,765,903C/T—likely benign
rs37362018820:34,765,945C/T—likely benign
rs11805332120:34,766,797G/Aintron variant—
rs13913716320:34,770,234G/T—likely benign
rs11633422420:34,770,258A/G—benign
rs160079207020:34,770,276G/A—likely benign
rs134610400120:34,770,277C/T—likely benign
rs6682353720:34,773,054G/C—benign
rs103363450820:34,773,137C/T—uncertain significance
rs14255177820:34,773,198C/T—likely benign
rs37632101420:34,773,212C/G—uncertain significance
rs11420883220:34,773,240G/A—benign
rs75508509320:34,773,255T/C—likely benign
rs19965200520:34,775,588T/C—likely benign
rs36959837120:34,775,661C/T—likely benign
rs251597702720:34,775,665G/C—uncertain significance
rs11157217920:34,775,692C/G—benign
rs14663711020:34,776,298C/T—likely benign
rs14139854420:34,776,337G/A—likely benign
rs19158203820:34,776,385G/A—likely benign
rs251600680720:34,776,425A/G—uncertain significance
rs11531613820:34,776,431C/T—benign
rs55389254820:34,776,567G/C——
rs103401032420:34,778,514C/A——
rs75667206420:34,778,599C/T—likely benign
rs15019731220:34,778,601G/A—likely benign
rs11574397620:34,778,616C/T—benign
rs251611702420:34,778,620G/A—uncertain significance
rs57470689820:34,778,661A/C—likely benign
rs7739656120:34,778,664C/T—likely benign
rs76121246320:34,778,705G/A—conflicting classifications of pathogenicity
rs143131977120:34,782,151G/C—uncertain significance
rs11186522120:34,782,156G/A—benign
rs124223824120:34,782,158T/A—likely benign
rs206208559120:34,782,163G/A—uncertain significance
rs229556820:34,782,171T/C—benign
rs37447768920:34,782,185A/C—conflicting classifications of pathogenicity
rs37154480820:34,782,227G/A—conflicting classifications of pathogenicity
rs75912624920:34,782,229T/A—uncertain significance
rs75235272720:34,782,234G/A—likely benign
rs75591740220:34,782,238G/A—uncertain significance
rs75369993920:34,782,253A/G—likely benign
rs14765412320:34,783,252C/T—likely benign
rs251628909220:34,783,263A/G—uncertain significance
rs74852312120:34,783,277C/T—likely benign
rs4558873620:34,785,834G/A—likely benign
rs139897731620:34,785,884G/A—uncertain significance
rs37577237020:34,785,895C/T—likely benign
rs14395622120:34,785,898G/C—uncertain significance
rs75770815420:34,785,901C/T—conflicting classifications of pathogenicity
rs11247139920:34,785,921C/T—likely benign
rs141521325620:34,785,930C/T—likely benign
rs608901620:34,785,935C/G—benign
rs14442643620:34,785,938A/G—likely benign
rs77864222220:34,785,956C/A—conflicting classifications of pathogenicity
rs75414749120:34,785,959A/G—likely benign
rs614252920:34,787,313A/Gintron variant—
rs14306133020:34,793,995A/C—benign
rs14719874320:34,794,305C/T—benign
rs14125047220:34,795,635C/A—benign
rs160098166120:34,797,425G/A—uncertain significance
rs77603114020:34,797,433C/T—likely benign
rs11335245120:34,797,455C/T—benign
rs251671585720:34,797,504A/T—uncertain significance
rs37530237820:34,797,513C/T—conflicting classifications of pathogenicity
rs55806360720:34,797,522T/C—likely benign
rs116964967520:34,797,532C/T—likely benign
rs206301724420:34,797,548C/T—uncertain significance
rs156933013320:34,797,585G/C—uncertain significance
rs251671835720:34,797,608A/G—uncertain significance
rs7390530320:34,797,610G/A—benign
rs206302107620:34,797,618G/A—uncertain significance
rs206302272020:34,797,633G/T—uncertain significance
rs14244734820:34,797,634C/T—conflicting classifications of pathogenicity
rs99373590620:34,797,635G/A—uncertain significance
rs75453998120:34,797,641G/A—uncertain significance
rs106049977320:34,797,653C/Tmissense variantpathogenic

Showing 100 of 128 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.