Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.E113K

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
2 papers
NM_001235.5
p.E113K
c.337G>A
Surrounding Variants
3 papers
NM_001235.5
p.E113fs
c.337_338fs
3 papers
NM_001235.5
p.E113_S119delFs
c.338_357del20
1 paper
NM_001235.5
p.E113_S119delins
c.338_357delinsTGCAACGT
1 paper
NM_001235.5
p.L115L
c.343C>T
1 paper
NM_001235.5
p.G110G
c.330C>A
1 paper
NM_001235.5
p.G110D
c.329G>A
1 paper
NM_001235.5
p.R116C
c.346C>T
1 paper
NM_001235.5
p.G110R
c.328G>C
1 paper
NM_001235.5
p.G110C
c.328G>T
3 papers
NM_001235.5
p.H108del1
c.322_323delCAC
1 paper
NM_001235.5
p.L118P
c.353T>C
1 paper
NM_001235.5
p.V107_L118del0
c.321_353del33
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