Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.T122insFs

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
1 paper
NM_000488.4
p.T122insFs
c.364dupA
Surrounding Variants
2 papers
NM_000488.4
p.T122S
c.365C>G
1 paper
NM_000488.4
p.T122N
c.365C>A
1 paper
NM_000488.4
p.T122fs
c.364_365fs
1 paper
NM_000488.4
p.T122S
c.364A>T
2 papers
NM_000488.4
p.M121I
c.363G>T
2 papers
NM_000488.4
p.M121I
c.363G>C
2 papers
NM_000488.4
p.M121I
c.363G>A
1 paper
NM_000488.4
p.K123*
c.367A>T
1 paper
NM_000488.4
p.M121R
c.362T>G
1 paper
NM_000488.4
p.M121K
c.362T>A
1 paper
NM_000488.4
p.L124R
c.371T>G
4 papers
NM_000488.4
p.F119L
c.357T>G
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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."