AIRE

autoimmune regulator

Summary

This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]

Known Variants884 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5827404121:45,705,486G/C—benign
rs75103221:45,705,660T/C—benign
rs15076755621:45,705,813C/A—benign
rs214637491221:45,705,849C/A—benign
rs100420857721:45,705,886C/A—uncertain significance
rs12143425821:45,705,890A/Tmissense variantpathogenic
rs214637498921:45,705,891T/A—pathogenic
rs214637499321:45,705,896A/C—uncertain significance
rs74902966021:45,705,898G/C—likely benign
rs101439825221:45,705,899G/A—uncertain significance
rs214637500621:45,705,900A/T—uncertain significance
rs76869601021:45,705,901C/T—likely benign
rs77416891621:45,705,902G/A—uncertain significance
rs251787554821:45,705,904G/T—likely benign
rs122850589621:45,705,907G/C—likely benign
rs134761196221:45,705,910A/G—likely benign
rs123146957421:45,705,911C/T—conflicting classifications of pathogenicity
rs120693310921:45,705,912G/A—likely pathogenic
rs204047761321:45,705,913C/G—likely benign
rs194295934221:45,705,914C/T—uncertain significance
rs105751787821:45,705,915G/Cmissense variantpathogenic
rs251787557221:45,705,916G/T—likely benign
rs102457740021:45,705,919T/C—likely benign
rs113169163621:45,705,923A/G—likely pathogenic
rs251787558221:45,705,930A/C—uncertain significance
rs214637506721:45,705,931C/T—likely benign
rs17936387521:45,705,932C/T—likely pathogenic
rs17936387621:45,705,933G/T—pathogenic
rs251787559021:45,705,934C/T—likely benign
rs134073992521:45,705,935A/G—likely pathogenic
rs17936387721:45,705,936C/T—pathogenic
rs214637508021:45,705,937G/C—likely benign
rs103699551821:45,705,940G/C—uncertain significance
rs251787560521:45,705,943C/G—likely pathogenic
rs155587179821:45,705,944G/A—uncertain significance
rs76173966521:45,705,946G/A—likely benign
rs17936388621:45,705,951C/Tmissense variantpathogenic
rs37179643721:45,705,952C/T—likely benign
rs251787562121:45,705,954T/G—uncertain significance
rs102888733721:45,705,955G/T—likely benign
rs97552547021:45,705,956G/A—uncertain significance
rs204047825421:45,705,957A/G—uncertain significance
rs136519807521:45,705,961C/T—likely benign
rs76102504421:45,705,962G/C—uncertain significance
rs139821739321:45,705,963C/G—uncertain significance
rs144310704021:45,705,967C/T—likely benign
rs17936387821:45,705,972T/Cmissense variantpathogenic
rs17936387921:45,705,975T/C—pathogenic
rs214637516021:45,705,976G/A—likely benign
rs75431607021:45,705,979C/T—likely benign
rs251787565721:45,705,982G/C—likely benign
rs98724124021:45,705,985G/T—likely benign
rs374696421:45,705,988T/C—benign
rs251787568421:45,705,991C/A—uncertain significance
rs75889104321:45,705,997C/A—uncertain significance
rs119285886821:45,706,003C/A—likely benign
rs142133911221:45,706,005C/T—uncertain significance
rs103329763621:45,706,006C/G—likely benign
rs86749575521:45,706,007G/C—uncertain significance
rs139378519021:45,706,010G/A—uncertain significance
rs145664073921:45,706,011A/G—uncertain significance
rs251787572521:45,706,012C/T—likely benign
rs204047921221:45,706,015G/A—likely benign
rs204047923521:45,706,020A/C—likely pathogenic
rs251787573721:45,706,023T/C—likely pathogenic
rs156892604921:45,706,029C/G—likely benign
rs214637526021:45,706,032C/T—likely benign
rs127689741621:45,706,033G/C—likely benign
rs78073052721:45,706,036C/T—likely benign
rs127204410221:45,706,037G/C—likely benign
rs123441650921:45,706,038C/T—likely benign
rs53531726721:45,706,039C/T—likely benign
rs7390715221:45,706,349C/T—benign
rs102437050321:45,706,420C/T—likely benign
rs19959012521:45,706,422C/T—likely benign
rs148221635821:45,706,424T/C—likely benign
rs20201148921:45,706,425G/A—likely benign
rs97111409321:45,706,426C/A—likely benign
rs37210967421:45,706,429C/A—likely benign
rs127314450821:45,706,431C/T—likely benign
rs75308484921:45,706,432C/T—likely benign
rs123539573121:45,706,434C/T—likely benign
rs115707752621:45,706,436G/A—likely benign
rs204048399021:45,706,442G/A—likely benign
rs214637570721:45,706,443A/T—uncertain significance
rs75887096221:45,706,444C/T—uncertain significance
rs37674104021:45,706,445G/A—likely benign
rs204048419521:45,706,456A/G—uncertain significance
rs14439662421:45,706,463G/A—conflicting classifications of pathogenicity
rs105751627221:45,706,464G/Tstop gainedpathogenic
rs141355221721:45,706,466G/A—likely benign
rs204048436821:45,706,469C/G—likely benign
rs75346028721:45,706,473C/T—uncertain significance
rs204048447721:45,706,474C/T—uncertain significance
rs20095518321:45,706,476C/G—uncertain significance
rs251787625921:45,706,479G/A—uncertain significance
rs74794111521:45,706,480C/G—pathogenic
rs251787626221:45,706,481C/G—likely benign
rs214637578121:45,706,484C/T—likely benign
rs20159195821:45,706,487C/T—likely benign

Showing 100 of 884 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.