Varaico: Literature-Extracted Genetic Variants

Gene:HPN
Variant:p.G189_G190insC

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.G189_G190insC
c.565_569ins3
Surrounding Variants
1 paper
NM_001384133.1
p.A201A
c.603C>A
1 paper
NM_001384133.1
p.R214*
c.640C>T
1 paper
NM_001384133.1
p.V222L
c.664G>C
1 paper
NM_001384133.1
p.V222L
c.664G>T
1 paper
NM_001384133.1
p.G229V
c.686G>T
1 paper
NM_001384133.1
p.G241G
c.723G>A
1 paper
NM_001384133.1
p.G242S
c.724G>A
1 paper
NM_001384133.1
p.P245A
c.733C>G
1 paper
NM_001384133.1
p.P245L
c.734C>T
1 paper
NM_001384133.1
p.R247R
c.739C>A
1 paper
NM_001384133.1
p.R247W
c.739C>T
1 paper
NM_001384133.1
p.D257A
c.770A>C
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