PNPLA1

patatin like domain 1, omega-hydroxyceramide transacylase

Summary

The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

Known Variants166 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5305733836:36,225,619G/A——
rs13732309876:36,238,292C/G—likely pathogenic
rs5609014056:36,238,322C/T—uncertain significance
rs7701641676:36,238,323G/A—conflicting classifications of pathogenicity
rs12311238616:36,238,328C/A—pathogenic
rs11823126126:36,238,336G/C—pathogenic
rs25331469096:36,238,355C/T—uncertain significance
rs5693426086:36,238,378C/T—uncertain significance
rs5335845076:36,238,385C/A—pathogenic
rs15820461256:36,238,393T/C—pathogenic
rs12078795996:36,238,394C/G—pathogenic
rs3712831916:36,238,395G/A—conflicting classifications of pathogenicity
rs8981452516:36,238,397C/A—uncertain significance
rs9951307036:36,238,405G/T—uncertain significance
rs14735367566:36,238,411G/A—uncertain significance
rs15618538476:36,238,412C/T—pathogenic
rs10296914316:36,238,414G/A—conflicting classifications of pathogenicity
rs11711171916:36,238,429G/A—likely benign
rs15618538876:36,238,446G/A—conflicting classifications of pathogenicity
rs607798866:36,238,651G/A—benign
rs1909263966:36,250,002G/Aintron variant—
rs93943426:36,258,935T/G—benign
rs1810875056:36,259,119C/T—uncertain significance
rs15618640996:36,259,122G/C—uncertain significance
rs12323767736:36,259,124G/T—uncertain significance
rs5724380376:36,259,126G/A—uncertain significance
rs7651494276:36,259,131C/T—likely benign
rs9229344226:36,259,157C/T—likely pathogenic
rs7498164246:36,259,167G/A—conflicting classifications of pathogenicity
rs12430945766:36,259,193G/C—uncertain significance
rs12194048876:36,259,194G/A—likely benign
rs1412619656:36,259,206C/T—uncertain significance
rs5612976506:36,259,208G/A—conflicting classifications of pathogenicity
rs5764032576:36,259,218C/G—likely benign
rs1449341856:36,259,219G/A—uncertain significance
rs3694451466:36,259,226C/A—pathogenic
rs3713077666:36,259,241C/T—uncertain significance
rs14078711036:36,259,253A/C—pathogenic
rs1853129596:36,259,263C/T—conflicting classifications of pathogenicity
rs15541377056:36,259,265C/A—uncertain significance
rs7629199396:36,259,267C/G—uncertain significance
rs1405853476:36,259,274C/T—conflicting classifications of pathogenicity
rs2008065196:36,259,278C/A—pathogenic
rs15618644536:36,259,282G/T—pathogenic
rs1504782146:36,259,308G/A—benign
rs7810537606:36,259,309T/C—pathogenic
rs15820787406:36,259,312A/G—pathogenic
rs7796554026:36,259,325T/C—uncertain significance
rs13780263856:36,259,337G/T—likely benign
rs8860613736:36,259,339C/T—uncertain significance
rs7768430176:36,259,363A/G—benign
rs577842366:36,259,466A/T—benign
rs728485516:36,260,529G/A—benign
rs22851286:36,260,586G/A—benign
rs3737116516:36,260,831C/T—conflicting classifications of pathogenicity
rs2011259286:36,260,832G/A—conflicting classifications of pathogenicity
rs25332004606:36,260,836A/G—pathogenic
rs15820816826:36,260,847T/C—pathogenic
rs22397956:36,260,858C/T—benign
rs7661888496:36,260,863C/T—likely pathogenic
rs1496134966:36,260,873T/C—likely benign
rs25332007216:36,260,886C/A—conflicting classifications of pathogenicity
rs7776582856:36,260,887C/T—pathogenic
rs3720723566:36,260,895C/T—conflicting classifications of pathogenicity
rs7624437616:36,260,898G/T—uncertain significance
rs22397966:36,260,914C/T—benign
rs779640966:36,261,008A/G—benign
rs22397976:36,261,670G/T—benign
rs47139496:36,261,885A/G—benign
rs14866074586:36,261,969G/T—uncertain significance
rs3731480996:36,261,976G/A—pathogenic
rs14623245326:36,261,989C/G—uncertain significance
rs1473891496:36,261,999G/A—likely benign
rs7483103456:36,262,017C/T—conflicting classifications of pathogenicity
rs7662155236:36,262,076C/T—conflicting classifications of pathogenicity
rs1874537276:36,262,089C/T—likely benign
rs15541380626:36,262,108T/C—pathogenic
rs21273468236:36,262,132A/G—likely pathogenic
rs8860613746:36,262,137C/T—uncertain significance
rs1471331026:36,262,152C/T—likely benign
rs749469106:36,262,153G/A—benign
rs3762451086:36,262,166C/T—conflicting classifications of pathogenicity
rs7572891936:36,262,169A/T—uncertain significance
rs94621706:36,262,358C/T—benign
rs94702456:36,262,382C/T—benign
rs94702466:36,262,463A/C—benign
rs94702476:36,262,483G/A—benign
rs173565246:36,262,927A/T—benign
rs789113766:36,262,940G/A—benign
rs47139516:36,262,991T/C—benign
rs17708249036:36,263,131C/T—uncertain significance
rs734216526:36,263,132C/T—benign
rs5312692586:36,263,133G/A—likely benign
rs1507929186:36,263,149C/T—benign
rs15618670946:36,263,150G/A—likely benign
rs7772689176:36,263,162C/T—likely pathogenic
rs7465751716:36,263,163G/C—likely pathogenic
rs1391731616:36,263,170C/T—conflicting classifications of pathogenicity
rs455248336:36,263,171G/A—likely benign
rs109475996:36,269,504G/A—benign

Showing 100 of 166 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.