Varaico: Literature-Extracted Genetic Variants

Gene:HPSE2
Variant:p.A20fs

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.A20fs
c.58_59fs
Surrounding Variants
5 papers
NM_021828.5
p.P19insFs
c.57dupC
1 paper
NM_021828.5
p.A20fs
c.58_59fs
1 paper
NM_021828.5
p.P18L
c.53C>T
1 paper
NM_021828.5
p.S16F
c.47C>T
1 paper
NM_021828.5
p.N15insFs
c.45dupC
1 paper
NM_021828.5
p.L27L
c.81C>T
1 paper
NM_021828.5
p.L29S
c.86T>C
1 paper
NM_021828.5
p.L32*
c.95T>A
1 paper
NM_021828.5
p.C5F
c.14G>T
1 paper
NM_021828.5
p.S36F
c.107C>T
1 paper
NM_021828.5
p.M1T
c.2T>C
1 paper
NM_021828.5
p.Q40P
c.119A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."