PCSK9

proprotein convertase subtilisin/kexin type 9

Summary

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Known Variants1,013 total

rsidPosition (GRCh37)AllelesClassClinVar
rs112065101:55,496,039T/Cintergenic variantassociation
rs24794091:55,504,650G/Aupstream gene variantuncertain significance
rs8860464251:55,505,158G/T—uncertain significance
rs8860464261:55,505,165G/C—uncertain significance
rs7787964051:55,505,180C/A—uncertain significance
rs16445810511:55,505,203A/G—uncertain significance
rs726588881:55,505,224G/A—likely benign
rs283622011:55,505,266G/T—conflicting classifications of pathogenicity
rs8860464271:55,505,274T/G—uncertain significance
rs8860464281:55,505,290T/G—uncertain significance
rs8860464291:55,505,311C/A—uncertain significance
rs8860464301:55,505,326A/G—uncertain significance
rs8860464311:55,505,331T/G—uncertain significance
rs15531353501:55,505,343C/A—benign
rs5746536691:55,505,371C/T—conflicting classifications of pathogenicity
rs8860398351:55,505,438A/G—uncertain significance
rs16445831781:55,505,443C/T—uncertain significance
rs8860398361:55,505,444C/A—uncertain significance
rs454480951:55,505,447T/C—benign
rs283622021:55,505,485G/A—likely benign
rs13416554361:55,505,501C/T—uncertain significance
rs12250467981:55,505,502C/T—likely benign
rs8860398371:55,505,503T/C—conflicting classifications of pathogenicity
rs16445839551:55,505,504G/A—uncertain significance
rs13570215761:55,505,507C/A—uncertain significance
rs25231625721:55,505,508C/G—uncertain significance
rs12091869791:55,505,512T/G—uncertain significance
rs25231626411:55,505,514G/A—uncertain significance
rs10185766991:55,505,515G/A—uncertain significance
rs16445840211:55,505,516C/T—likely benign
rs9661006771:55,505,518C/A—uncertain significance
rs14658657351:55,505,519C/T—likely benign
rs1866698051:55,505,520G/A—conflicting classifications of pathogenicity
rs25231627671:55,505,522C/T—likely benign
rs16445841301:55,505,527C/T—uncertain significance
rs21002505701:55,505,531G/A—likely benign
rs14263614071:55,505,532C/T—uncertain significance
rs10212805471:55,505,533G/A—conflicting classifications of pathogenicity
rs5624802651:55,505,537C/G—likely benign
rs9680237601:55,505,544C/A—uncertain significance
rs7605587121:55,505,545C/T—conflicting classifications of pathogenicity
rs12024535111:55,505,546G/A—likely benign
rs16445843251:55,505,550C/T—uncertain significance
rs12404581611:55,505,552A/G—likely benign
rs3732953271:55,505,562C/T—likely benign
rs13221345191:55,505,563T/G—uncertain significance
rs12712122241:55,505,567G/C—likely benign
rs16445849171:55,505,575T/C—uncertain significance
rs9264631991:55,505,576C/T—likely benign
rs14790304041:55,505,580G/A—uncertain significance
rs3768197691:55,505,585C/T—likely benign
rs15531354001:55,505,586G/A—uncertain significance
rs14134432461:55,505,587C/T—uncertain significance
rs16445852071:55,505,588G/A—likely benign
rs11876136011:55,505,590G/C—uncertain significance
rs12886028411:55,505,591C/T—likely benign
rs5478603271:55,505,592G/A—uncertain significance
rs15702906471:55,505,594C/T—likely benign
rs8665975551:55,505,595C/G—uncertain significance
rs11600588091:55,505,596G/A—uncertain significance
rs9587509571:55,505,599C/A—uncertain significance
rs16445854181:55,505,600G/A—likely benign
rs5644278671:55,505,604G/Amissense variantpathogenic
rs12912056621:55,505,606G/C—uncertain significance
rs9172196211:55,505,607G/A—uncertain significance
rs3710303811:55,505,610G/A—uncertain significance
rs7646030591:55,505,613G/Tmissense variantpathogenic
rs5334745231:55,505,615C/T—likely benign
rs7577537301:55,505,616G/A—uncertain significance
rs12562449411:55,505,617G/A—uncertain significance
rs14827187501:55,505,618C/T—conflicting classifications of pathogenicity
rs12107054451:55,505,621C/A—uncertain significance
rs25231644771:55,505,623A/G—uncertain significance
rs25231644901:55,505,624C/T—likely benign
rs7815905131:55,505,625G/A—uncertain significance
rs14163308781:55,505,628G/A—conflicting classifications of pathogenicity
rs25231645551:55,505,630G/A—likely benign
rs5502631351:55,505,632T/A—uncertain significance
rs16445857651:55,505,633G/C—likely benign
rs3741421231:55,505,636G/T—likely benign
rs11783097601:55,505,642C/T—likely benign
rs11906161891:55,505,645G/A—likely benign
rs7477137721:55,505,646C/T—uncertain significance
rs115911471:55,505,647G/Tmissense variantpathogenic
rs25231647831:55,505,648T/G—likely benign
rs13722040351:55,505,650C/G—pathogenic
rs283857011:55,505,651C/T—conflicting classifications of pathogenicity
rs12788901291:55,505,652G/A—uncertain significance
rs7470022721:55,505,657G/C—conflicting classifications of pathogenicity
rs25231648981:55,505,658G/C—uncertain significance
rs8892892651:55,505,660C/T—likely benign
rs13467574671:55,505,661G/T—uncertain significance
rs10072231801:55,505,662G/A—uncertain significance
rs10560464101:55,505,664C/T—likely benign
rs14881571231:55,505,665T/C—uncertain significance
rs12316491011:55,505,666G/A—likely benign
rs115836801:55,505,668C/Tmissense variantlikely benign
rs7592143291:55,505,669C/T—likely benign
rs7700805831:55,505,670G/A—uncertain significance
rs16445865821:55,505,674C/T—uncertain significance

Showing 100 of 1,013 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.