Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.T117M

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
12 papers
NM_000488.4
p.T117M
c.350C>T
Surrounding Variants
6 papers
NM_000488.4
p.T117K
c.350C>A
2 papers
NM_000488.4
p.A118P
c.352G>C
1 paper
NM_000488.4
p.A118D
c.353C>A
7 papers
NM_000488.4
p.S116P
c.346T>C
1 paper
NM_000488.4
p.I115delFs
c.345delG
4 papers
NM_000488.4
p.F119L
c.355T>C
1 paper
NM_000488.4
p.I115N
c.344T>A
4 papers
NM_000488.4
p.F119L
c.357T>G
4 papers
NM_000488.4
p.F119L
c.357T>A
6 papers
NM_000488.4
p.S114R
c.342T>G
4 papers
NM_000488.4
p.S114R
c.342T>A
6 papers
NM_000488.4
p.S114N
c.341G>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."