Varaico: Literature-Extracted Genetic Variants

Gene:HPN

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
1–12 of 46 variants
2 papers
NM_001384133.1
p.V65L
c.193G>C
2 papers
NM_001384133.1
p.R84W
c.250A>T
2 papers
NM_001384133.1
p.A111T
c.331G>A
1 paper
NM_001384133.1
p.K4E
c.10A>G
1 paper
NM_001384133.1
p.R8L
c.23G>T
1 paper
NM_001384133.1
p.A20V
c.59C>T
1 paper
NM_001384133.1
p.A23G
c.68C>G
1 paper
NM_001384133.1
p.V42insFs
c.125_126ins4
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.V54Splc
c.160+971C>T
1 paper
NM_001384133.1
p.L63_M64insFs
c.189_190insC
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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."