Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.V407L

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.V407L
c.1219G>C
Surrounding Variants
8 papers
NM_001235.5
p.R405H
c.1214G>A
1 paper
NM_001235.5
p.R405C
c.1213C>T
1 paper
NM_001235.5
p.G404R
c.1210G>A
1 paper
NM_001235.5
p.G404R
c.1210G>C
1 paper
NM_001235.5
p.G411S
c.1231G>A
2 papers
NM_001235.5
p.G411insFs
c.1233dupT
1 paper
NM_001235.5
p.L401delFs
c.1202_1203delTA
1 paper
NM_001235.5
p.L400V
c.1198C>G
1 paper
NM_001235.5
p.S399F
c.1196C>T
4 papers
NM_001235.5
p.R415*
c.1243C>T
1 paper
NM_001235.5
p.S397S
c.1191C>T
1 paper
NM_001235.5
p.F388_I389insFs
c.1163_1166dup4
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