PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

Summary

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]

Known Variants389 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6206821417:2,496,621T/C—likely benign
rs7590612917:2,496,737C/T—benign
rs7602676217:2,498,860A/G—benign
rs7666711017:2,498,893G/T—likely benign
rs14441468917:2,501,348A/G—likely benign
rs57744722017:2,516,585C/G—likely benign
rs37211001217:2,516,812G/T—likely benign
rs55485705917:2,516,875G/A—benign
rs124138497417:2,517,137G/T—benign
rs57585166917:2,524,534G/A——
rs7135917117:2,531,375T/Aregulatory region variant—
rs206852683217:2,532,459C/G—uncertain significance
rs1695227317:2,541,142A/G—likely benign
rs58778426517:2,541,585G/Amissense variantpathogenic
rs206864974517:2,541,601C/T—likely pathogenic
rs206864981017:2,541,603A/G—likely benign
rs12143448917:2,541,604C/Tstop gainedpathogenic
rs254402860217:2,541,622T/G—likely benign
rs990828317:2,555,570G/Aupstream gene variant—
rs721901517:2,555,592C/Tupstream gene variant—
rs14762331917:2,566,089G/C—likely benign
rs11612914517:2,568,592T/C—likely benign
rs77749646717:2,568,652A/G—likely benign
rs254408584017:2,568,661T/C—pathogenic
rs58778426017:2,568,663C/T—pathogenic
rs105752124317:2,568,665G/C—pathogenic
rs58778426217:2,568,670C/Asynonymous variantlikely benign
rs37476636017:2,568,671G/A—uncertain significance
rs77441129317:2,568,676A/G—uncertain significance
rs215165929817:2,568,684T/C—likely benign
rs58778427217:2,568,689T/Gmissense variantpathogenic
rs97570209517:2,568,691C/A—uncertain significance
rs103030069317:2,568,692G/A—likely benign
rs156755457417:2,568,695C/G—pathogenic
rs58778428517:2,568,705T/Gstop gainedpathogenic
rs215165937017:2,568,708A/G—likely benign
rs36925996117:2,568,717T/Gstop gainedpathogenic
rs12143448617:2,568,725T/Cmissense variantpathogenic
rs254408605317:2,568,728A/G—uncertain significance
rs254408606617:2,568,738T/C—likely benign
rs95554168017:2,568,744A/C—uncertain significance
rs76767021417:2,568,745G/A—uncertain significance
rs145487547117:2,568,749T/C—uncertain significance
rs215165941317:2,568,751G/C—pathogenic
rs254408612917:2,568,753A/G—uncertain significance
rs155552624817:2,568,755G/C—likely pathogenic
rs98823410517:2,568,758T/C—likely benign
rs215165942917:2,568,767A/G—likely benign
rs75404697117:2,568,768C/T—likely benign
rs14769208517:2,569,296T/C—likely benign
rs58778425017:2,569,313G/Amissense variantpathogenic
rs215166000617:2,569,315A/G—likely benign
rs254408790617:2,569,316G/A—uncertain significance
rs130688975117:2,569,318A/G—likely benign
rs77535306317:2,569,327A/G—likely benign
rs76843707617:2,569,332A/G—uncertain significance
rs206910335017:2,569,347A/G—uncertain significance
rs58778425417:2,569,355T/Amissense variantpathogenic
rs75799327017:2,569,356G/A—pathogenic
rs76544898717:2,569,363T/G—likely benign
rs77319566217:2,569,368T/C—uncertain significance
rs135558261617:2,569,369T/A—likely benign
rs254408817617:2,569,370A/T—pathogenic
rs58778425717:2,569,384G/Cmissense variantpathogenic
rs58778425617:2,569,385G/A—pathogenic
rs206910382917:2,569,391A/G—likely benign
rs134769521317:2,569,394T/C—likely benign
rs58778425517:2,569,399T/C—conflicting classifications of pathogenicity
rs7546844617:2,569,427T/C—benign
rs14054816817:2,569,433C/T—likely benign
rs11161209617:2,569,558T/C—benign
rs20047155717:2,570,270C/T—likely benign
rs254408991217:2,570,272T/C—likely benign
rs104203560417:2,570,273G/A—likely benign
rs52942111217:2,570,279T/C—likely benign
rs254408995717:2,570,285G/A—likely pathogenic
rs254408995817:2,570,288T/A—likely benign
rs90413114017:2,570,300A/G—likely benign
rs15090170817:2,570,333G/A—likely benign
rs254409005617:2,570,338G/T—uncertain significance
rs124900339217:2,570,345T/C—likely benign
rs13943412417:2,570,346C/T—uncertain significance
rs118303537217:2,570,347T/A—uncertain significance
rs58778425817:2,570,358C/Tstop gainedpathogenic
rs254409014717:2,570,370G/T—pathogenic
rs215166097717:2,570,375G/A—likely pathogenic
rs75644328417:2,570,376A/G—likely benign
rs215166098417:2,570,380C/G—likely pathogenic
rs76485578017:2,570,386C/T—uncertain significance
rs15006178217:2,570,387G/A—likely benign
rs254409023917:2,570,397T/G—uncertain significance
rs77951949517:2,570,399T/G—pathogenic
rs36912948517:2,570,426C/T—likely benign
rs88604134117:2,570,430C/Tstop gainedpathogenic
rs254409032017:2,570,431G/A—benign
rs138907094917:2,570,436A/G—benign
rs79704586017:2,570,443A/G—uncertain significance
rs254409033917:2,570,444T/C—likely benign
rs215166105217:2,570,446C/G—uncertain significance
rs254409035717:2,570,448G/A—uncertain significance

Showing 100 of 389 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.