Varaico: Literature-Extracted Genetic Variants

Gene:HPSE
Variant:p.M1R

HPSE

233 papers

RefSeq Summary

Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit...

Pfam Domains

Glyco_hydro_79naa 148–370UCSCGlycosyl hydrolase family 79, N-terminal domain

Gene Aliases

HGNC Name

heparanase

HGNC Alias Symbols

HPA; HSE1; HPSE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001098540.3
p.M1R
c.2T>G
Surrounding Variants
1 paper
NM_001098540.3
p.L2L
c.4C>T
4 papers
NM_001098540.3
p.L2P
c.5T>C
1 paper
NM_001098540.3
p.R4P
c.11G>C
2 papers
NM_001098540.3
p.R4H
c.11G>A
1 paper
NM_001098540.3
p.S5L
c.14C>T
1 paper
NM_001098540.3
p.P12S
c.34C>T
1 paper
NM_001098540.3
p.M14R
c.41T>G
1 paper
NM_001098540.3
p.L18L
c.52C>T
1 paper
NM_001098540.3
p.G19R
c.55G>C
1 paper
NM_001098540.3
p.G27S
c.79G>A
1 paper
NM_001098540.3
p.Q34R
c.101A>G
1 paper
NM_001098540.3
p.A35S
c.103G>T
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