Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.R167fs

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.R167fs
c.499_500fs
Surrounding Variants
1 paper
NM_001235.5
p.R167C
c.499C>T
1 paper
NM_001235.5
p.K166_R167delFs
c.498_499delGC
1 paper
NM_001235.5
p.A169delFs
c.505_506delGC
1 paper
NM_001235.5
p.A169insFs
c.506dupC
1 paper
NM_001235.5
p.A169S
c.505G>T
1 paper
NM_001235.5
p.Q171E
c.511C>G
1 paper
NM_001235.5
p.S159F
c.476C>T
1 paper
NM_001235.5
p.E175K
c.523G>A
1 paper
NM_001235.5
p.H158N
c.472C>A
1 paper
NM_001235.5
p.E157E
c.471G>A
1 paper
NM_001235.5
p.A177T
c.529G>A
2 papers
NM_001235.5
p.A177S
c.529G>T
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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."