Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.A126D

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.A126D
c.377C>A
Surrounding Variants
1 paper
NM_000488.4
p.A126G
c.377C>G
8 papers
NM_000488.4
p.C127R
c.379T>C
1 paper
NM_000488.4
p.C127S
c.379T>A
3 papers
NM_000488.4
p.G125D
c.374G>A
2 papers
NM_000488.4
p.C127Y
c.380G>A
1 paper
NM_000488.4
p.G125C
c.373G>T
1 paper
NM_000488.4
p.G125S
c.373G>A
2 papers
NM_000488.4
p.N128Y
c.382A>T
1 paper
NM_000488.4
p.L124R
c.371T>G
1 paper
NM_000488.4
p.D129N
c.385G>A
1 paper
NM_000488.4
p.D129G
c.386A>G
1 paper
NM_000488.4
p.K123*
c.367A>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."