Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.A63V

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.A63V
c.188C>T
Surrounding Variants
2 papers
NM_001235.5
p.Q62*
c.184C>T
1 paper
NM_001235.5
p.I67T
c.200T>C
1 paper
NM_001235.5
p.S70*
c.209C>A
1 paper
NM_001235.5
p.S70*
c.209C>G
1 paper
NM_001235.5
p.Q56K
c.166C>A
1 paper
NM_001235.5
p.S76W
c.227C>G
7 papers
NM_001235.5
p.L50R
c.149T>G
1 paper
NM_001235.5
p.S77L
c.230C>T
19 papers
NM_001235.5
p.L78P
c.233T>C
4 papers
NM_001235.5
p.L78L
c.234A>G
1 paper
NM_001235.5
p.S47R
c.141C>A
1 paper
NM_001235.5
p.R46G
c.136C>G
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