Varaico: Literature-Extracted Genetic Variants

Gene:HPSE2
Variant:p.Q543L

HPSE2

102 papers

RefSeq 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 in...

Pfam Domains

Glyco_hydro_79naa 167–408UCSCGlycosyl hydrolase family 79, N-terminal domain

Gene Aliases

HGNC Name

heparanase 2 (inactive)

HGNC Previous Symbol

UFS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001166246.1
p.Q543L
c.1628A>T
Surrounding Variants
6 papers
NM_021828.5
p.N543I
c.1628A>T
1 paper
NM_021828.5
p.V550M
c.1648G>A
2 papers
NM_021828.5
p.R564Q
c.1691G>A
1 paper
NM_021828.5
p.Y579fs
c.1735_1736fs
5 papers
NM_001166245.1
p.Y467F
c.1400A>T
NM_021828.5
p.Y579F
c.1736A>T
1 paper
NM_021828.5
p.N585S
c.1754A>G
1 paper
NM_021828.5
p.A586T
c.1756G>A
1 paper
NM_021828.5
p.Y591Y
c.1773C>T
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