PEX6

peroxisomal biogenesis factor 6

Summary

This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Known Variants1,339 total

rsidPosition (GRCh37)AllelesClassClinVar
rs8860614096:42,931,666A/C—uncertain significance
rs8664651096:42,931,705C/T—uncertain significance
rs1170556586:42,931,730C/G—uncertain significance
rs7361586:42,931,754G/A—benign
rs10512186:42,931,861A/G—likely benign
rs8860614106:42,931,905G/A—uncertain significance
rs7471031686:42,932,073C/T—likely benign
rs14274017256:42,932,078A/C—uncertain significance
rs1151809496:42,932,080G/A—likely benign
rs12309784386:42,932,088C/T—likely benign
rs7572548546:42,932,092C/A—uncertain significance
rs5753584356:42,932,093G/A—uncertain significance
rs12119785876:42,932,095T/G—uncertain significance
rs7510582926:42,932,101C/A—uncertain significance
rs7613959886:42,932,102G/A—uncertain significance
rs12165292996:42,932,103C/G—uncertain significance
rs14488468026:42,932,106G/A—likely benign
rs5583230696:42,932,108A/G—uncertain significance
rs1452431296:42,932,109C/G—conflicting classifications of pathogenicity
rs3744260326:42,932,110C/T—uncertain significance
rs3776941816:42,932,111G/A—uncertain significance
rs24811925316:42,932,112G/A—likely benign
rs24811925666:42,932,115C/T—likely benign
rs24811925916:42,932,121C/T—likely benign
rs7779736836:42,932,123G/C—uncertain significance
rs15618185386:42,932,124C/T—likely benign
rs9582831716:42,932,127A/G—likely benign
rs13617966306:42,932,131A/G—uncertain significance
rs7710290966:42,932,132C/T—likely benign
rs3696568446:42,932,133T/A—likely benign
rs8860437246:42,932,134G/A—uncertain significance
rs17696446526:42,932,138G/A—uncertain significance
rs5620401796:42,932,139T/C—conflicting classifications of pathogenicity
rs14372910006:42,932,141G/A—conflicting classifications of pathogenicity
rs7696532846:42,932,142C/G—likely benign
rs21142351996:42,932,143A/C—uncertain significance
rs13704708676:42,932,145C/T—likely benign
rs3702015056:42,932,146C/T—uncertain significance
rs7628589336:42,932,147G/A—uncertain significance
rs2001156716:42,932,149G/A—likely benign
rs7741458576:42,932,150C/T—uncertain significance
rs14079287556:42,932,151G/A—likely benign
rs7614336146:42,932,154A/C—likely benign
rs7670190916:42,932,155G/A—uncertain significance
rs24811930836:42,932,160C/T—likely benign
rs7674309816:42,932,162G/A—likely benign
rs12518000226:42,932,166G/C—uncertain significance
rs24811931556:42,932,169C/T—likely benign
rs24811931636:42,932,171C/T—uncertain significance
rs14091801076:42,932,174T/C—uncertain significance
rs15618186926:42,932,178G/A—likely benign
rs20637040236:42,932,186G/T—uncertain significance
rs9167268266:42,932,187T/G—likely benign
rs21142353596:42,932,190T/C—likely benign
rs11291876:42,932,200G/Tmissense variantbenign
rs11291866:42,932,202C/T—benign
rs14589114176:42,932,205C/A—likely benign
rs17696522506:42,932,207G/A—likely benign
rs2676082516:42,932,211T/C—pathogenic
rs21142354556:42,932,213G/C—likely benign
rs24811934616:42,932,214A/C—likely benign
rs21142354736:42,932,217T/C—likely benign
rs24811935236:42,932,223G/A—likely benign
rs9277425186:42,932,225T/C—likely benign
rs7574618916:42,932,226G/C—likely benign
rs9403488016:42,932,228G/A—likely benign
rs7812916766:42,932,229G/A—likely benign
rs77756076:42,932,450C/T—likely benign
rs3704452986:42,932,513C/T—likely benign
rs5440744426:42,932,514G/A—benign
rs21142361116:42,932,519G/T—likely benign
rs17696767596:42,932,522G/A—uncertain significance
rs7519008266:42,932,527C/T—likely pathogenic
rs9184602956:42,932,529T/C—uncertain significance
rs7476542946:42,932,532C/T—likely benign
rs24811955946:42,932,537G/A—likely benign
rs24811956386:42,932,544A/C—likely benign
rs7562960746:42,932,546C/A—uncertain significance
rs12320756006:42,932,549T/C—uncertain significance
rs2012659546:42,932,551C/T—uncertain significance
rs3745312426:42,932,552G/A—uncertain significance
rs24811957536:42,932,556G/C—likely benign
rs345518396:42,932,564C/A—likely benign
rs14369003096:42,932,565T/C—likely benign
rs12047468916:42,932,566G/A—uncertain significance
rs21142362736:42,932,571A/T—likely benign
rs7479068676:42,932,577A/G—likely benign
rs24811959256:42,932,580G/A—likely benign
rs14184269296:42,932,581C/T—uncertain significance
rs3700313966:42,932,588A/G—uncertain significance
rs15618190496:42,932,593A/G—uncertain significance
rs2020492306:42,932,598C/T—conflicting classifications of pathogenicity
rs626412326:42,932,599G/A—pathogenic
rs3745491806:42,932,600C/T—pathogenic
rs7747216096:42,932,604C/T—likely benign
rs7620898176:42,932,605G/A—uncertain significance
rs21142364096:42,932,610C/A—uncertain significance
rs21142364166:42,932,612G/A—pathogenic
rs21142364236:42,932,616A/G—likely benign
rs15618190966:42,932,617G/A—uncertain significance

Showing 100 of 1,339 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.