PACS1

phosphofurin acidic cluster sorting protein 1

Summary

This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]

Known Variants685 total

rsidPosition (GRCh37)AllelesClassClinVar
rs225438811:65,837,599C/T—benign
rs237623111:65,837,679C/G—benign
rs249522963811:65,837,956C/T—likely benign
rs156509549011:65,837,978G/A—likely benign
rs249522972511:65,837,984T/C—likely benign
rs103393548011:65,838,001G/C—likely benign
rs138157861111:65,838,003G/T—uncertain significance
rs159072299111:65,838,005C/T—likely benign
rs185728871311:65,838,022G/A—uncertain significance
rs143985627511:65,838,031T/G—likely benign
rs134349417511:65,838,034C/T—likely benign
rs76329461911:65,838,040C/G—conflicting classifications of pathogenicity
rs249522997211:65,838,046A/C—uncertain significance
rs142842397911:65,838,052C/A—uncertain significance
rs7535264611:65,838,059G/A—benign
rs36923365811:65,838,061A/C—conflicting classifications of pathogenicity
rs97450768411:65,838,063C/G—uncertain significance
rs116251162711:65,838,070A/C—likely benign
rs147307453611:65,838,082C/T—uncertain significance
rs77869331011:65,838,092G/T—likely benign
rs133489747911:65,838,093A/G—uncertain significance
rs213448647411:65,838,111C/T—uncertain significance
rs120933787011:65,838,119C/G—likely benign
rs148360445111:65,838,127C/T—uncertain significance
rs105569269011:65,838,163C/T—likely benign
rs76179302811:65,838,172C/T—likely benign
rs102600669811:65,838,176C/T—likely benign
rs185729348611:65,838,178C/T—uncertain significance
rs75365628311:65,838,181C/T—uncertain significance
rs249523063711:65,838,185G/A—uncertain significance
rs213448673411:65,838,191G/C—likely benign
rs56361254911:65,838,203G/A—likely benign
rs249523073711:65,838,205G/T—uncertain significance
rs126887183911:65,838,219G/A—uncertain significance
rs249523091111:65,838,243C/T—uncertain significance
rs249523098211:65,838,255C/T—likely pathogenic
rs249523102311:65,838,271C/G—uncertain significance
rs185729546911:65,838,299C/T—likely benign
rs145954385111:65,838,305C/T—likely benign
rs123288678611:65,838,338G/A—likely benign
rs55222805811:65,838,343G/A—benign
rs1182361811:65,838,530G/T—benign
rs7786780111:65,838,572C/T—benign
rs14651391111:65,855,947A/Gintron variant—
rs1122740211:65,858,324C/Tintron variant—
rs48498311:65,880,463G/Aregulatory region variant—
rs52773711:65,884,800C/A——
rs56434311:65,895,166A/Gregulatory region variant—
rs80174211:65,914,766C/Aintron variant—
rs80173811:65,924,217C/A——
rs712780811:65,931,919A/Tintron variant—
rs80173211:65,935,502T/Aintron variant—
rs1089609011:65,945,186A/Gintron variant—
rs659120711:65,949,674T/Aregulatory region variant—
rs37034973611:65,960,922G/A—benign
rs37258274211:65,960,953C/T—conflicting classifications of pathogenicity
rs249550209111:65,960,968T/C—uncertain significance
rs120243421611:65,960,972C/T—likely benign
rs37603429811:65,960,984C/T—likely benign
rs11549112111:65,960,985G/A—conflicting classifications of pathogenicity
rs249550218911:65,960,988A/G—uncertain significance
rs92493114111:65,960,999A/G—likely benign
rs249550224311:65,961,000A/G—uncertain significance
rs76532564211:65,961,001T/C—conflicting classifications of pathogenicity
rs249550225311:65,961,003G/T—uncertain significance
rs185457957111:65,961,016A/T—uncertain significance
rs213467404611:65,961,024G/A—benign
rs77972245911:65,961,029C/A—likely benign
rs20187794311:65,961,030G/A—conflicting classifications of pathogenicity
rs249550238811:65,961,040T/G—uncertain significance
rs249550240311:65,961,050T/A—uncertain significance
rs74852350411:65,961,053G/A—conflicting classifications of pathogenicity
rs37680122811:65,961,054G/C—likely benign
rs77805072111:65,961,058G/A—likely benign
rs249550246511:65,961,063T/C—likely benign
rs7293665611:65,969,091T/A——
rs56571411:65,977,533T/G—benign
rs55588990411:65,977,812G/C—likely benign
rs18297754511:65,977,818T/C—likely benign
rs213469883111:65,977,848C/A—conflicting classifications of pathogenicity
rs249553711411:65,977,849T/G—likely benign
rs53821900511:65,977,851C/T—uncertain significance
rs78144298011:65,977,859C/T—likely benign
rs74593901711:65,977,860G/A—uncertain significance
rs76983580911:65,977,865C/T—likely benign
rs77428074111:65,977,866G/A—uncertain significance
rs74805223511:65,977,871T/C—likely benign
rs213469890811:65,977,877T/A—likely benign
rs145745748511:65,977,878A/G—likely benign
rs249553721111:65,977,879G/T—uncertain significance
rs213469892311:65,977,880T/A—uncertain significance
rs185504437311:65,977,898G/A—likely benign
rs104390920811:65,977,899C/T—uncertain significance
rs249553726011:65,977,902C/T—uncertain significance
rs249553726811:65,977,905T/C—likely benign
rs249553733011:65,977,922G/C—uncertain significance
rs213469896911:65,977,925G/A—benign
rs105668151111:65,977,929C/T—likely benign
rs249553735111:65,977,932T/C—likely benign
rs13800966411:65,977,935T/C—benign

Showing 100 of 685 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.