Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.K43N

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.K43N
c.129G>T
Surrounding Variants
1 paper
NM_000488.4
p.K43N
c.129G>C
2 papers
NM_000488.4
p.K43fs
c.127_128fs
1 paper
NM_000488.4
p.P44L
c.131C>T
1 paper
NM_000488.4
p.K43Q
c.127A>C
1 paper
NM_000488.4
p.A42delFs
c.126delG
10 papers
NM_000488.4
p.R45W
c.133C>T
8 papers
NM_000488.4
p.R45Q
c.134G>A
1 paper
NM_000488.4
p.C40Y
c.119G>A
1 paper
NM_000488.4
p.I47L
c.139A>C
1 paper
NM_000488.4
p.C40R
c.118T>C
2 papers
NM_000488.4
p.I39insFs
c.115dupA
2 papers
NM_000488.4
p.I39N
c.116T>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."