Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.I453insFs

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.I453insFs
c.1357dupA
Surrounding Variants
1 paper
NM_000488.4
p.I453T
c.1358T>C
1 paper
NM_000488.4
p.I453fs
c.1357_1358fs
1 paper
NM_000488.4
p.I452T
c.1355T>C
1 paper
NM_000488.4
p.F454delFs
c.1361delA
8 papers
NM_000488.4
p.G456R
c.1366G>C
1 paper
NM_000488.4
p.G456fs
c.1366_1367fs
1 paper
NM_000488.4
p.G456D
c.1367G>A
2 papers
NM_000488.4
p.N450I
c.1349A>T
1 paper
NM_000488.4
p.G456insFs
c.1366dupG
1 paper
NM_000488.4
p.G456delFs
c.1366delC
1 paper
NM_000488.4
p.N450fs
c.1348_1349fs
2 papers
NM_000488.4
p.N450D
c.1348A>G
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