Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.G31V

SERPINH1

170 papers

RefSeq Summary

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a colla...

Pfam Domains

Serpinaa 45–409UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family H member 1

HGNC Previous Symbols

CBP1; CBP2; SERPINH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001235.5
p.G31V
c.92G>T
Surrounding Variants
2 papers
NM_001235.5
p.A28V
c.83C>T
1 paper
NM_001235.5
p.A27T
c.79G>A
1 paper
NM_001235.5
p.A27fs
c.79_80fs
1 paper
NM_001235.5
p.A26V
c.77C>T
1 paper
NM_001235.5
p.A26insFs
c.77dupC
1 paper
NM_001235.5
p.A25E
c.74C>A
1 paper
NM_001235.5
p.P38insFs
c.113dupC
1 paper
NM_001235.5
p.A40G
c.119C>G
3 papers
NM_001235.5
p.A40V
c.119C>T
1 paper
NM_001235.5
p.A41_F52delFs
c.122_156del35
1 paper
NM_001235.5
p.E20A
c.59A>C
1 paper
NM_001235.5
p.E20Q
c.58G>C
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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."