Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.T180insFs

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.T180insFs
c.540dupC
Surrounding Variants
2 papers
NM_001235.5
p.T180_E187delFs
c.538_560del23
1 paper
NM_001235.5
p.Q179R
c.536A>G
1 paper
NM_001235.5
p.T181delFs
c.542delC
2 papers
NM_001235.5
p.A178_D182del0
c.534_545del12
1 paper
NM_001235.5
p.A178T
c.532G>A
2 papers
NM_001235.5
p.A177V
c.530C>T
1 paper
NM_001235.5
p.A177T
c.529G>A
1 paper
NM_001235.5
p.G183S
c.547G>A
2 papers
NM_001235.5
p.A177S
c.529G>T
1 paper
NM_001235.5
p.L185L
c.553C>T
1 paper
NM_001235.5
p.E175K
c.523G>A
1 paper
NM_001235.5
p.T189A
c.565A>G
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