Varaico: Literature-Extracted Genetic Variants

Gene:HPSE2
Variant:p.D155N

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.D155N
c.463G>A
Surrounding Variants
8 papers
NM_021828.5
p.R153*
c.457C>T
1 paper
NM_021828.5
p.K190E
c.568A>G
1 paper
NM_021828.5
p.K190N
c.570G>T
1 paper
NM_021828.5
p.K190N
c.570G>C
1 paper
NM_021828.5
p.Q192R
c.575A>G
1 paper
NM_021828.5
p.L200L
c.600C>T
2 papers
NM_021828.5
p.T203del1
c.607_608delTGT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."