Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.N224D

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
2 papers
NM_000488.4
p.N224D
c.670A>G
Surrounding Variants
8 papers
NM_000488.4
p.N224H
c.670A>C
1 paper
NM_000488.4
p.R215_N224delFs
c.645_670del26
7 papers
NM_000488.4
p.S223P
c.667T>C
1 paper
NM_000488.4
p.V222delFs
c.666delC
1 paper
NM_000488.4
p.S223fs
c.667_668fs
1 paper
NM_000488.4
p.K225N
c.675G>T
2 papers
NM_000488.4
p.W221C
c.663G>T
2 papers
NM_000488.4
p.W221C
c.663G>C
21 papers
NM_000488.4
p.T226I
c.677C>T
2 papers
NM_000488.4
p.W221S
c.662G>C
2 papers
NM_000488.4
p.W221R
c.661T>C
1 paper
NM_000488.4
p.W221R
c.661T>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."