ATPAF2

ATP synthase mitochondrial F1 complex assembly factor 2

Summary

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

Known Variants154 total

rsidPosition (GRCh37)AllelesClassClinVar
rs78001019117:17,921,337G/A—uncertain significance
rs14788952517:17,921,378C/T—uncertain significance
rs7798007217:17,921,407A/G—benign
rs53070073517:17,921,485T/A—uncertain significance
rs88605266417:17,921,526A/G—uncertain significance
rs14163801817:17,921,613G/A—uncertain significance
rs14371099517:17,921,669G/T—uncertain significance
rs3467324217:17,921,698G/A—benign
rs76008034417:17,921,725C/T—uncertain significance
rs134634521217:17,921,726G/A—uncertain significance
rs76532583317:17,921,731G/A—uncertain significance
rs11773951517:17,921,733A/G—benign
rs55193910517:17,921,755G/A—uncertain significance
rs54738943717:17,921,809G/A—uncertain significance
rs204441744717:17,921,837C/G—uncertain significance
rs112806917:17,921,843G/C—benign
rs55017597617:17,921,865A/G—uncertain significance
rs204441820317:17,921,870T/C—uncertain significance
rs97805952317:17,921,878C/A—uncertain significance
rs77585150517:17,921,901C/T—uncertain significance
rs57030511817:17,921,902G/A—likely benign
rs14031171617:17,921,912T/C—uncertain significance
rs14260457717:17,921,928C/T—conflicting classifications of pathogenicity
rs56578542317:17,921,929G/A—likely benign
rs36847706417:17,921,931C/T—uncertain significance
rs76621849017:17,921,934C/T—uncertain significance
rs11342052017:17,921,939C/T—uncertain significance
rs55462271817:17,921,940G/A—uncertain significance
rs254506877717:17,921,943C/T—uncertain significance
rs74644611617:17,921,948A/Gmissense variantpathogenic
rs155563401517:17,921,955G/A—uncertain significance
rs3399718217:17,921,995C/T—benign
rs36767123117:17,922,011G/A—likely benign
rs11370320317:17,922,125G/A—likely benign
rs1165281917:17,922,161C/T—benign
rs11326081717:17,922,200A/G—likely benign
rs11474331417:17,922,215T/C—likely benign
rs806981117:17,922,280G/A—benign
rs19223909917:17,922,317T/G—likely benign
rs807941817:17,924,060C/G——
rs7742664717:17,924,136G/T—likely benign
rs19973784117:17,924,420G/C—likely benign
rs3460765517:17,924,447T/C—likely benign
rs156856591017:17,924,455G/T—likely benign
rs77001561017:17,924,456C/T—uncertain significance
rs76178893817:17,924,457G/A—uncertain significance
rs105752326117:17,924,464C/T—likely benign
rs14370564217:17,924,470G/A—likely benign
rs14809536317:17,924,489C/T—conflicting classifications of pathogenicity
rs20191687717:17,924,490G/A—uncertain significance
rs19992309617:17,924,493G/A—likely benign
rs122780222017:17,924,502G/A—likely benign
rs75685359817:17,924,519A/G—uncertain significance
rs37248726617:17,924,520T/C—uncertain significance
rs254507271317:17,924,527G/A—likely benign
rs204446532517:17,924,534G/A—uncertain significance
rs14102010717:17,924,535C/A—conflicting classifications of pathogenicity
rs254507276717:17,924,539T/C—likely benign
rs86322391017:17,924,542A/C—conflicting classifications of pathogenicity
rs11403655717:17,924,822A/C—benign
rs989683717:17,924,868A/G—benign
rs7974161317:17,924,903T/C—benign
rs806714617:17,924,956T/C—benign
rs53990348417:17,925,039A/G—likely benign
rs156856702217:17,925,040C/T—likely benign
rs76139967317:17,925,041A/G—likely benign
rs75651971617:17,925,078G/A—likely benign
rs254507394617:17,925,089G/A—likely benign
rs77880246017:17,925,098C/A—uncertain significance
rs78016676117:17,925,109C/G—uncertain significance
rs14182748817:17,925,110G/C—conflicting classifications of pathogenicity
rs15018533717:17,925,129G/A—likely benign
rs254507406317:17,925,135C/T—uncertain significance
rs159766667317:17,925,146T/C—uncertain significance
rs6207357017:17,925,164T/C—uncertain significance
rs36793931617:17,925,167C/T—uncertain significance
rs75735754917:17,925,168G/A—likely benign
rs100808335117:17,925,171T/C—conflicting classifications of pathogenicity
rs11378283917:17,925,222C/A—likely benign
rs11175580617:17,925,427C/T—likely benign
rs7815784317:17,925,436G/A—likely benign
rs11306088117:17,927,669G/A—benign
rs75169039717:17,927,922G/A—likely benign
rs132495856917:17,927,933C/G—uncertain significance
rs74787210317:17,927,954C/T—uncertain significance
rs159766917417:17,927,958G/T—likely benign
rs204451901817:17,927,961T/G—uncertain significance
rs14600066317:17,927,990C/T—uncertain significance
rs77724742617:17,927,999C/T—uncertain significance
rs13866648617:17,928,000G/A—likely benign
rs76570364617:17,928,012C/T—likely benign
rs37747697317:17,928,015G/A—likely benign
rs7819598817:17,929,427A/T—benign
rs77856495117:17,929,613C/T—likely benign
rs37441960317:17,929,618C/T—likely benign
rs77698675017:17,929,622A/G—conflicting classifications of pathogenicity
rs77022090917:17,929,637T/C—uncertain significance
rs156857229817:17,929,643C/T—uncertain significance
rs14168118917:17,929,656C/T—likely benign
rs76668023817:17,929,661C/T—uncertain significance

Showing 100 of 154 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.