Varaico: Literature-Extracted Genetic Variants

Gene:HPSE2
Variant:p.R506*

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
5 papers
NM_021828.5
p.R506*
c.1516C>T
Surrounding Variants
2 papers
NM_021828.5
p.R506Q
c.1517G>A
1 paper
NM_021828.5
p.L504delFs
c.1512delC
1 paper
NM_021828.5
p.R506_K509delFs
c.1517_1527del11
1 paper
NM_021828.5
p.G515G
c.1545G>A
1 paper
NM_001166244.1
p.Y467F
c.1400A>T
1 paper
NM_021828.5
p.G534D
c.1601G>A
7 papers
NM_021828.5
p.N489delFs
c.1465_1466delTT
2 papers
NM_021828.5
p.N489fs
c.1465_1466fs
1 paper
NM_021828.5
p.R475R
c.1425G>A
2 papers
NM_021828.5
p.R475W
c.1423C>T
4 papers
NM_021828.5
p.R472*
c.1414C>T
4 papers
NM_021828.5
p.K467M
c.1400A>T
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