Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.L83fs

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.L83fs
c.247_248fs
Surrounding Variants
1 paper
NM_001235.5
p.L83delFs
c.248_249delTG
1 paper
NM_001235.5
p.G84R
c.250G>C
1 paper
NM_001235.5
p.G85S
c.253G>A
1 paper
NM_001235.5
p.G85D
c.254G>A
4 papers
NM_001235.5
p.L78L
c.234A>G
1 paper
NM_001235.5
p.A87_T89insFs
c.261_265dup5
19 papers
NM_001235.5
p.L78P
c.233T>C
1 paper
NM_001235.5
p.T88N
c.263C>A
1 paper
NM_001235.5
p.S77L
c.230C>T
1 paper
NM_001235.5
p.T89M
c.266C>T
1 paper
NM_001235.5
p.S76W
c.227C>G
1 paper
NM_001235.5
p.T89T
c.267G>A
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