Varaico: Literature-Extracted Genetic Variants

Gene:HPSE2
Variant:p.S243C

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
3 papers
NM_021828.5
p.S243C
c.727A>T
Surrounding Variants
3 papers
NM_021828.5
p.L242delFs
c.724delG
1 paper
NM_021828.5
p.A241T
c.721G>A
1 paper
NM_021828.5
p.W236C
c.708G>T
1 paper
NM_021828.5
p.W236C
c.708G>C
2 papers
NM_021828.5
p.K252delFs
c.755delT
3 papers
NM_021828.5
p.N254del1
c.760_761delGTT
2 papers
NM_021828.5
p.R230C
c.688C>T
1 paper
NM_021828.5
p.R229H
c.686G>A
1 paper
NM_021828.5
p.A227V
c.680C>T
1 paper
NM_021828.5
p.N226N
c.678T>C
1 paper
NM_021828.5
p.L225_N226Fs
c.675_676delinsGFs
1 paper
NM_021828.5
p.N261del1
c.781_782delATT
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