Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.V432E

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.V432E
c.1295T>A
Surrounding Variants
1 paper
NM_000488.4
p.R431insFs
c.1292dupG
1 paper
NM_000488.4
p.V432fs
c.1294_1295fs
3 papers
NM_000488.4
p.T433S
c.1297A>T
2 papers
NM_000488.4
p.T433S
c.1298C>G
3 papers
NM_000488.4
p.F434L
c.1300T>C
1 paper
NM_000488.4
p.F434C
c.1301T>G
5 papers
NM_000488.4
p.F434S
c.1301T>C
3 papers
NM_000488.4
p.F434L
c.1302C>G
3 papers
NM_000488.4
p.F434L
c.1302C>A
1 paper
NM_000488.4
p.N430D
c.1288A>G
1 paper
NM_000488.4
p.I422_P429delFs
c.1265_1286del22
8 papers
NM_000488.4
p.P429L
c.1286C>T
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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."