ABCA3

ATP binding cassette subfamily A member 3

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]

Known Variants1,392 total

rsidPosition (GRCh37)AllelesClassClinVar
rs209364562516:2,325,937G/T—uncertain significance
rs94094462116:2,325,983G/A—uncertain significance
rs57483847616:2,325,986C/T—uncertain significance
rs56816729316:2,326,050T/C—uncertain significance
rs88605180416:2,326,054G/A—uncertain significance
rs74857603016:2,326,228G/A—uncertain significance
rs88605180516:2,326,242G/A—uncertain significance
rs77078233816:2,326,269G/A—uncertain significance
rs103478794816:2,326,296G/A—uncertain significance
rs7933791516:2,326,363C/A—benign
rs96220668316:2,326,386C/T—uncertain significance
rs88605180616:2,326,397C/T—uncertain significance
rs54235231116:2,326,407C/T—uncertain significance
rs77258948116:2,326,408G/A—uncertain significance
rs88605180716:2,326,472A/C—uncertain significance
rs57225989216:2,326,483C/T—uncertain significance
rs18993161116:2,326,520C/T—uncertain significance
rs137144051716:2,326,521G/A—uncertain significance
rs55748769316:2,326,579A/G—uncertain significance
rs4547709716:2,326,667G/A—uncertain significance
rs147646796516:2,326,674C/T—uncertain significance
rs75205616716:2,326,680G/A—uncertain significance
rs250560939816:2,326,681C/T—likely benign
rs126117879316:2,326,684C/T—likely benign
rs13995411216:2,326,689C/T—likely benign
rs137679003816:2,326,690T/C—likely benign
rs74562549316:2,326,692C/T—uncertain significance
rs20164185116:2,326,693G/A—likely benign
rs37702467116:2,326,699C/T—likely benign
rs76871854716:2,326,700G/A—uncertain significance
rs131956690016:2,326,705C/T—likely benign
rs250560948216:2,326,707G/A—likely benign
rs129562919516:2,326,708G/A—likely benign
rs88605180816:2,326,710G/A—uncertain significance
rs53712456916:2,326,714G/A—likely benign
rs250560953116:2,326,733T/C—uncertain significance
rs209364702716:2,326,737G/C—uncertain significance
rs37006578416:2,326,738C/T—likely benign
rs120069251216:2,326,742A/G—uncertain significance
rs209364704716:2,326,747G/A—likely benign
rs209364705416:2,326,750C/T—uncertain significance
rs75997446416:2,326,752C/T—conflicting classifications of pathogenicity
rs55848941416:2,326,753G/A—likely benign
rs105139954816:2,326,762G/A—likely benign
rs18250336116:2,326,767C/T—uncertain significance
rs14317635616:2,326,768G/A—likely benign
rs20207893616:2,326,770C/T—conflicting classifications of pathogenicity
rs74690893416:2,326,771G/A—likely benign
rs209364712816:2,326,792C/T—likely benign
rs74819709516:2,326,800C/G—uncertain significance
rs127357231716:2,326,801G/A—likely benign
rs77337494716:2,326,810T/G—likely benign
rs89789356316:2,326,813G/A—likely benign
rs20098130316:2,326,814G/A—likely benign
rs250560971516:2,326,817C/T—likely benign
rs76001055816:2,326,818A/G—likely benign
rs250560972216:2,326,820A/G—likely benign
rs145692746116:2,326,824G/A—likely benign
rs1186060616:2,326,898G/C—likely benign
rs11641182116:2,327,008G/C—benign
rs4544670116:2,327,119G/C—benign
rs4559383616:2,327,341C/T—likely benign
rs156733522416:2,327,581C/G—likely benign
rs250561078416:2,327,582C/G—likely benign
rs250561078716:2,327,583C/T—likely benign
rs141924797316:2,327,585G/T—likely benign
rs250561079516:2,327,589C/T—likely benign
rs77105289316:2,327,601C/T—likely benign
rs14665149816:2,327,602G/A—uncertain significance
rs77609688016:2,327,614T/G—uncertain significance
rs214168719416:2,327,615C/T—uncertain significance
rs14882345816:2,327,617C/T—uncertain significance
rs77283922916:2,327,622C/T—likely benign
rs75127565516:2,327,630G/T—uncertain significance
rs14258447916:2,327,637G/A—conflicting classifications of pathogenicity
rs250561090716:2,327,652C/T—likely benign
rs250561091916:2,327,658T/C—likely benign
rs75603103116:2,327,666C/T—conflicting classifications of pathogenicity
rs37205010316:2,327,667G/A—likely benign
rs77775436416:2,327,675C/T—likely benign
rs250561094916:2,327,677C/T—likely benign
rs139108088316:2,327,678A/G—likely benign
rs90455206816:2,327,686G/A—likely benign
rs36824928416:2,327,688C/T—likely benign
rs75740332016:2,327,689G/A—likely benign
rs6204066516:2,327,864C/T—likely benign
rs75868364316:2,327,865G/A—likely benign
rs55555154216:2,327,867G/T—likely benign
rs20075326316:2,327,868G/C—conflicting classifications of pathogenicity
rs78150300616:2,327,869C/T—likely benign
rs104292862916:2,327,870C/T—likely benign
rs53819595516:2,327,871G/A—likely benign
rs250561140916:2,327,872G/A—likely benign
rs156733535516:2,327,879C/T—pathogenic
rs93956605716:2,327,883G/C—uncertain significance
rs77389773716:2,327,884A/G—likely benign
rs75911230716:2,327,888G/T—uncertain significance
rs88605180916:2,327,893G/C—uncertain significance
rs77517091416:2,327,898C/T—uncertain significance
rs146110378816:2,327,899G/A—likely benign

Showing 100 of 1,392 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.