Varaico: Literature-Extracted Genetic Variants

Gene:HPN
Variant:p.L63_M64insFs

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.L63_M64insFs
c.189_190insC
Surrounding Variants
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
1 paper
NM_001384133.1
p.E91K
c.271G>A
1 paper
NM_001384133.1
p.R97W
c.289A>T
2 papers
NM_001384133.1
p.A111T
c.331G>A
1 paper
NM_001384133.1
p.G116_F117del1
c.348_350delCTT
1 paper
NM_001384133.1
p.L125_P126ins4
c.373_377ins12
1 paper
NM_001384133.1
p.I135F
c.403A>T
1 paper
NM_001384133.1
p.G189_G190insC
c.565_569ins3
1 paper
NM_001384133.1
p.A201A
c.603C>A
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."