Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.V30E

SERPINC1

777 papers

RefSeq Summary

The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of...

Pfam Domains

Serpinaa 85–461UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family C member 1

HGNC Previous Symbol

AT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
33 papers
NM_000488.4
p.V30E
c.89T>A
Surrounding Variants
1 paper
NM_000488.4
p.V30M
c.88G>A
1 paper
NM_000488.4
p.C29S
c.86G>C
1 paper
NM_000488.4
p.C29R
c.85T>C
1 paper
NM_000488.4
p.C29S
c.85T>A
1 paper
NM_000488.4
p.T31T
c.93C>T
1 paper
NM_000488.4
p.C32R
c.94T>C
1 paper
NM_000488.4
p.D28insFs
c.83dupA
1 paper
NM_000488.4
p.C32Y
c.95G>A
1 paper
NM_000488.4
p.C32W
c.96T>G
1 paper
NM_000488.4
p.C32*
c.96T>A
4 papers
NM_000488.4
p.W27*
c.81G>A
4 papers
NM_000488.4
p.W27*
c.80G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."