HPSE2

heparanase 2 (inactive)

Summary

This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Known Variants144 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3571296810:100,219,262T/G—benign
rs1088309910:100,219,314G/A—benign
rs13809802710:100,219,341C/T—uncertain significance
rs74569557010:100,219,342G/T—uncertain significance
rs76965294110:100,219,347G/T—uncertain significance
rs55513668810:100,219,349C/T—likely benign
rs37082261510:100,219,356T/C—uncertain significance
rs76765973610:100,219,360C/T—uncertain significance
rs1088310010:100,219,374T/A—benign
rs37750446710:100,219,403C/G—uncertain significance
rs37108904910:100,219,406T/C—benign
rs57796675910:100,219,414C/T—uncertain significance
rs253918274410:100,219,421A/G—likely benign
rs253918297210:100,219,446A/C—uncertain significance
rs39751545210:100,219,482T/Amissense variantpathogenic
rs14006666810:100,219,492C/G—likely benign
rs123754925310:100,219,496C/A—uncertain significance
rs1118961810:100,219,519G/A—benign
rs1088310410:100,221,266C/T—benign
rs7437574410:100,221,596G/A—benign
rs3534412210:100,242,109G/T—benign
rs1118962910:100,242,195C/T—benign
rs193280010:100,242,345C/G—benign
rs36795053210:100,242,386C/T—likely benign
rs37219416310:100,242,422C/T—likely benign
rs74863637410:100,242,489C/T—uncertain significance
rs26760686610:100,242,490G/Astop gainedpathogenic
rs36914990710:100,242,524A/G—likely benign
rs14454529210:100,242,526G/A—uncertain significance
rs14015483910:100,242,530G/A—likely benign
rs39751533810:100,249,808——pathogenic
rs36885767210:100,249,850C/G—uncertain significance
rs26760686410:100,249,860G/Cmissense variantuncertain significance
rs156491494310:100,249,904A/G—uncertain significance
rs54562079810:100,249,918G/C—uncertain significance
rs77875262010:100,249,925C/T—uncertain significance
rs11154961710:100,249,964T/C—benign
rs91995309210:100,249,966G/A—likely benign
rs74587334010:100,249,968G/C—likely benign
rs11253482910:100,249,971G/A—likely benign
rs7585320010:100,250,052G/T—benign
rs192564710:100,250,186C/A—benign
rs57796910:100,291,176C/Tintron variant—
rs1078643610:100,300,182C/Tintron variant—
rs11332195610:100,374,362C/T—benign
rs125278010:100,374,505C/T—benign
rs253973919010:100,374,664T/A—uncertain significance
rs253973920010:100,374,666A/T—uncertain significance
rs98588921610:100,374,764G/C—uncertain significance
rs76372743010:100,374,769C/T—likely benign
rs789675810:100,380,226T/C—benign
rs11176223110:100,380,370A/G—likely benign
rs37216955610:100,380,382G/A—likely benign
rs77700329810:100,380,393T/C—uncertain significance
rs14679471310:100,380,396T/C—uncertain significance
rs20058376010:100,380,410G/A—likely benign
rs76141742610:100,380,417C/A—uncertain significance
rs139123942110:100,380,423C/T—uncertain significance
rs18427010810:100,380,466C/T—pathogenic
rs213398644810:100,380,467T/C—pathogenic
rs37656672210:100,380,474A/G—likely benign
rs11570246910:100,401,415T/C—benign
rs15093984210:100,401,647C/T—uncertain significance
rs105228727810:100,401,648G/A—uncertain significance
rs253982326410:100,401,676C/T—likely benign
rs69365610:100,401,745T/C—benign
rs52388410:100,401,933G/A—benign
rs7283196110:100,401,956T/C—benign
rs54287410:100,427,632G/Aintron variant—
rs213417020210:100,453,656C/T—likely pathogenic
rs253999901710:100,453,664A/G—uncertain significance
rs74974265410:100,453,673C/T—uncertain significance
rs117248230510:100,453,707G/A—likely benign
rs142115932410:100,453,716A/C—likely benign
rs77614659910:100,453,721G/A—likely benign
rs1078645510:100,454,144G/Aintron variant—
rs1118977210:100,481,305T/C—benign
rs1711074410:100,481,427C/T—likely benign
rs20091681710:100,481,443C/T—likely benign
rs76170144510:100,481,447C/T—uncertain significance
rs142052964910:100,481,451C/T—uncertain significance
rs89072587510:100,481,464A/G—likely benign
rs213425033310:100,481,468A/T—pathogenic
rs14210236010:100,481,475C/T—likely benign
rs75885218910:100,481,493T/A—uncertain significance
rs77984144810:100,481,524A/G—likely benign
rs37654380610:100,481,555C/T—uncertain significance
rs75303919810:100,481,571G/A—uncertain significance
rs194893408910:100,481,587T/C—likely pathogenic
rs254009180110:100,481,598C/T—likely benign
rs18476437610:100,503,620G/A—benign
rs118287430010:100,503,633T/C—likely benign
rs18878452710:100,503,697T/A—likely benign
rs141836324410:100,503,714T/C—uncertain significance
rs53920819310:100,503,739G/A—uncertain significance
rs194956545910:100,503,758T/C—uncertain significance
rs125666559310:100,503,774G/C—uncertain significance
rs14786653010:100,503,793A/G—benign
rs37618814410:100,503,819A/G—likely benign
rs129781508010:100,503,829G/A—likely benign

Showing 100 of 144 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.