Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.M52_I54insFs

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.M52_I54insFs
c.155_161dup7
Surrounding Variants
1 paper
NM_000488.4
p.Y55fs
c.163_164fs
1 paper
NM_000488.4
p.I54N
c.161T>A
1 paper
NM_000488.4
p.Y55*
c.165C>G
1 paper
NM_000488.4
p.Y55*
c.165C>A
10 papers
NM_000488.4
p.R56C
c.166C>T
1 paper
NM_000488.4
p.I54V
c.160A>G
3 papers
NM_000488.4
p.R56H
c.167G>A
2 papers
NM_000488.4
p.C53F
c.158G>T
2 papers
NM_000488.4
p.C53S
c.158G>C
1 paper
NM_000488.4
p.R56R
c.168C>T
1 paper
NM_000488.4
p.C53R
c.157T>C
3 papers
NM_000488.4
p.C53S
c.157T>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."