Varaico: Literature-Extracted Genetic Variants

Gene:HPN
Variant:p.V54Splc

HPN

43 papers

RefSeq Summary

This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the enco...

Pfam Domains

Hepsin-SRCRaa 50–159UCSCHepsin, SRCR domain
Trypsinaa 163–400UCSCTrypsin

Gene Aliases

HGNC Name

hepsin

HGNC Alias Name

transmembrane protease, serine 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384133.1
p.V54Splc
c.160+971C>T
Surrounding Variants
1 paper
NM_001384133.1
p.R45S
c.135G>C
1 paper
NM_001384133.1
p.R45S
c.135G>T
1 paper
NM_001384133.1
p.V42insFs
c.125_126ins4
1 paper
NM_001384133.1
p.A23G
c.68C>G
1 paper
NM_001384133.1
p.A20V
c.59C>T
1 paper
NM_001384133.1
p.R8L
c.23G>T
1 paper
NM_001384133.1
p.K4E
c.10A>G
1 paper
NM_001384133.1
p.L63_M64insFs
c.189_190insC
2 papers
NM_001384133.1
p.V65L
c.193G>C
1 paper
NM_001384133.1
p.R80H
c.239G>A
1 paper
NM_001384133.1
p.S81C
c.242C>G
2 papers
NM_001384133.1
p.R84W
c.250A>T
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