Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.R377C

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.R377C
c.1129C>T
Surrounding Variants
1 paper
NM_001235.5
p.R373C
c.1117C>T
1 paper
NM_001235.5
p.R373delFs
c.1118_1119delGC
1 paper
NM_001235.5
p.A384_F390delFs
c.1152_1170del19
1 paper
NM_001235.5
p.D369D
c.1107C>T
1 paper
NM_001235.5
p.D385N
c.1153G>A
1 paper
NM_001235.5
p.H386N
c.1156C>A
1 paper
NM_001235.5
p.F388_I389insFs
c.1163_1166dup4
1 paper
NM_001235.5
p.F366_D367delFs
c.1097_1101del5
1 paper
NM_001235.5
p.D362delFs
c.1086delT
1 paper
NM_001235.5
p.S397S
c.1191C>T
1 paper
NM_001235.5
p.A356T
c.1066G>A
2 papers
NM_001235.5
p.T355I
c.1064C>T
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