GPIHBP1

glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1

Summary

This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

Known Variants135 total

rsidPosition (GRCh37)AllelesClassClinVar
rs726916258:144,294,674G/Aupstream gene variant—
rs679635538:144,294,860G/C—benign
rs7768715248:144,295,150C/T—uncertain significance
rs5467102678:144,295,151G/A—likely benign
rs617476448:144,295,154C/T—benign
rs5295801088:144,295,155G/T—uncertain significance
rs14339651778:144,295,163C/T—likely benign
rs7573284288:144,295,166G/A—likely benign
rs1409008808:144,295,172C/T—likely benign
rs3705457328:144,295,173C/T—uncertain significance
rs115383898:144,295,183G/G—benign
rs7490102418:144,295,184C/T—likely benign
rs5394919958:144,295,185G/A—likely benign
rs7793094818:144,295,188C/T—uncertain significance
rs7725803148:144,295,190G/T—likely benign
rs3766921138:144,295,198C/A—uncertain significance
rs13954052098:144,295,201G/A—uncertain significance
rs7765469688:144,295,208G/A—likely benign
rs748804948:144,295,334G/A—benign
rs24889076818:144,295,719G/A—likely benign
rs7768356388:144,295,734C/G—uncertain significance
rs13544452068:144,295,735G/A—uncertain significance
rs24889077178:144,295,736A/T—uncertain significance
rs7701568658:144,295,743C/T—likely benign
rs3679020338:144,295,744G/C—uncertain significance
rs12820594818:144,295,746G/A—likely benign
rs14865720868:144,295,750G/C—uncertain significance
rs7607228918:144,295,761C/T—likely benign
rs10322356318:144,295,762G/A—uncertain significance
rs24889078198:144,295,777G/A—uncertain significance
rs115383888:144,295,782G/T—benign
rs18162608278:144,295,791G/A—likely benign
rs7648995168:144,295,792G/A—uncertain significance
rs13198588628:144,295,794G/A—likely benign
rs24889078528:144,295,795A/T—uncertain significance
rs3717714258:144,295,801A/C—likely benign
rs24889078738:144,295,807C/G—uncertain significance
rs5877776368:144,295,810G/C—uncertain significance
rs24889078818:144,295,812T/C—likely benign
rs3748783468:144,295,824A/G—likely benign
rs5535707708:144,295,844C/T—likely benign
rs583010478:144,296,480G/Cintron variant—
rs111362698:144,296,637C/G—benign
rs7765091018:144,296,877C/A—likely benign
rs21306726518:144,296,887G/T—pathogenic
rs5677362408:144,296,889G/A—likely benign
rs24889087798:144,296,894T/C—uncertain significance
rs5565590358:144,296,896C/T—conflicting classifications of pathogenicity
rs5780739378:144,296,897G/A—conflicting classifications of pathogenicity
rs13006854568:144,296,899T/C—pathogenic
rs5877776388:144,296,900G/Cmissense variantpathogenic
rs24889088008:144,296,904C/T—likely benign
rs5877776398:144,296,908T/Gmissense variantpathogenic
rs10148544358:144,296,909G/A—pathogenic
rs13654262778:144,296,917C/G—uncertain significance
rs13259046868:144,296,928C/T—likely benign
rs7510116428:144,296,931G/A—likely benign
rs7566712978:144,296,932C/T—uncertain significance
rs1493055828:144,296,933G/A—likely benign
rs7803403788:144,296,936G/A—likely pathogenic
rs12893584638:144,296,960A/G—uncertain significance
rs5454345188:144,296,964C/G—likely benign
rs13982317708:144,296,970C/G—likely benign
rs5877776408:144,296,972G/Tmissense variantpathogenic
rs7763886998:144,296,973C/A—pathogenic
rs24889089618:144,296,975C/A—likely benign
rs5420348578:144,296,978C/T—uncertain significance
rs24889089908:144,296,986G/C—uncertain significance
rs7749824188:144,296,988C/G—likely benign
rs1382158738:144,296,991C/T—likely benign
rs1429591608:144,297,000C/T—likely benign
rs1474557268:144,297,001G/A—uncertain significance
rs5620289378:144,297,010G/A—benign
rs1996227828:144,297,011C/T—likely benign
rs781233808:144,297,020G/A—benign
rs560461798:144,297,028C/T—benign
rs5366571638:144,297,117C/A—likely benign
rs2015912458:144,297,123C/T—benign
rs2012562718:144,297,125C/A—likely benign
rs3759030458:144,297,126C/G—likely benign
rs5311360988:144,297,130C/T—benign
rs5877776438:144,297,158C/Gmissense variantpathogenic
rs7527288238:144,297,161C/G—pathogenic
rs5877776418:144,297,169A/Cmissense variantpathogenic
rs24889092738:144,297,172G/A—uncertain significance
rs5877776378:144,297,182A/Cmissense variantpathogenic
rs7643292088:144,297,186C/T—likely benign
rs14509997178:144,297,189C/T—likely benign
rs3716508378:144,297,197C/A—uncertain significance
rs7797747508:144,297,198G/A—likely benign
rs12160798888:144,297,199G/A—uncertain significance
rs21306733848:144,297,200T/C—uncertain significance
rs2016857318:144,297,206G/A—conflicting classifications of pathogenicity
rs7788537988:144,297,219C/T—likely benign
rs5369602268:144,297,222G/A—uncertain significance
rs24889093628:144,297,236C/T—likely benign
rs18162891118:144,297,237C/T—likely benign
rs24889093728:144,297,244T/G—uncertain significance
rs14475789998:144,297,258C/G—likely benign
rs12846116598:144,297,260G/A—likely pathogenic

Showing 100 of 135 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.