Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.S341P

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.S341P
c.1021T>C
Surrounding Variants
2 papers
NM_001235.5
p.G342delFs
c.1026delC
1 paper
NM_001235.5
p.R339C
c.1015C>T
1 paper
NM_001235.5
p.R339_S341delFs
c.1016_1023del8
1 paper
NM_001235.5
p.S338L
c.1013C>T
2 papers
NM_001235.5
p.L337L
c.1011G>A
1 paper
NM_001235.5
p.D345insFs
c.1034dupA
1 paper
NM_001235.5
p.L346P
c.1037T>C
1 paper
NM_001235.5
p.A349V
c.1046C>T
1 paper
NM_001235.5
p.V351L
c.1051G>T
1 paper
NM_001235.5
p.H353H
c.1059C>T
2 papers
NM_001235.5
p.T355I
c.1064C>T
16 papers
NM_001235.5
p.L326P
c.977T>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."