Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.Y230C

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.Y230C
c.689A>G
Surrounding Variants
2 papers
NM_001235.5
p.T231T
c.693C>T
1 paper
NM_001235.5
p.V232M
c.694G>A
1 paper
NM_001235.5
p.V232E
c.695T>A
1 paper
NM_001235.5
p.V232_G233delins
c.696_697delinsTA
1 paper
NM_001235.5
p.G233S
c.697G>A
1 paper
NM_001235.5
p.M225_V226insFs
c.675_676insCA
12 papers
NM_001235.5
p.M237T
c.710T>C
1 paper
NM_001235.5
p.M237I
c.711G>C
1 paper
NM_001235.5
p.H238N
c.712C>A
6 papers
NM_001235.5
p.R222S
c.664C>A
1 paper
NM_001235.5
p.N221T
c.662A>C
1 paper
NM_001235.5
p.R239Q
c.716G>A
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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."