Varaico: Literature-Extracted Genetic Variants

Gene:HPSE2
Variant:p.F213L

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.F213L
c.639T>G
Surrounding Variants
4 papers
NM_021828.5
p.Y211H
c.631T>C
1 paper
NM_021828.5
p.R205K
c.614G>A
1 paper
NM_021828.5
p.L225_N226Fs
c.675_676delinsGFs
1 paper
NM_021828.5
p.N226N
c.678T>C
1 paper
NM_021828.5
p.A227V
c.680C>T
1 paper
NM_021828.5
p.R229H
c.686G>A
2 papers
NM_021828.5
p.R230C
c.688C>T
1 paper
NM_021828.5
p.W236C
c.708G>T
1 paper
NM_021828.5
p.W236C
c.708G>C
1 paper
NM_021828.5
p.A241T
c.721G>A
3 papers
NM_021828.5
p.L242delFs
c.724delG
3 papers
NM_021828.5
p.S243C
c.727A>T
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."