Varaico: Literature-Extracted Genetic Variants

Gene:HPSE2
Variant:p.N77H

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
1 paper
NM_021828.5
p.N77H
c.229A>C
Surrounding Variants
3 papers
NM_021828.5
p.L81fs
c.241_242fs
3 papers
NM_021828.5
p.L81delFs
c.241_242delAG
1 paper
NM_021828.5
p.H89L
c.266A>T
1 paper
NM_021828.5
p.W92L
c.275G>T
1 paper
NM_021828.5
p.K58N
c.174G>T
1 paper
NM_021828.5
p.K58N
c.174G>C
1 paper
NM_021828.5
p.L55M
c.163T>A
1 paper
NM_021828.5
p.A52T
c.154G>A
1 paper
NM_021828.5
p.R44S
c.132G>T
1 paper
NM_021828.5
p.R44S
c.132G>C
1 paper
NM_021828.5
p.Q40P
c.119A>C
1 paper
NM_021828.5
p.S36F
c.107C>T
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