Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.I230N

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.I230N
c.689T>A
Surrounding Variants
12 papers
NM_000488.4
p.R229*
c.685C>T
2 papers
NM_000488.4
p.D232N
c.694G>A
1 paper
NM_000488.4
p.G228V
c.683G>T
9 papers
NM_000488.4
p.E227K
c.679G>A
3 papers
NM_000488.4
p.I234F
c.700A>T
21 papers
NM_000488.4
p.T226I
c.677C>T
1 paper
NM_000488.4
p.K225N
c.675G>T
1 paper
NM_000488.4
p.R215_N224delFs
c.645_670del26
3 papers
NM_000488.4
p.S236L
c.707C>T
2 papers
NM_000488.4
p.N224D
c.670A>G
8 papers
NM_000488.4
p.N224H
c.670A>C
2 papers
NM_000488.4
p.E237K
c.709G>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."