Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.L131F

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
60 papers
NM_000488.4
p.L131F
c.391C>T
Surrounding Variants
1 paper
NM_000488.4
p.L131V
c.391C>G
2 papers
NM_000488.4
p.T130I
c.389C>T
2 papers
NM_000488.4
p.Q132*
c.394C>T
1 paper
NM_000488.4
p.Q132P
c.395A>C
1 paper
NM_000488.4
p.Q132delFs
c.394delG
1 paper
NM_000488.4
p.D129G
c.386A>G
1 paper
NM_000488.4
p.D129N
c.385G>A
1 paper
NM_000488.4
p.Q133K
c.397C>A
1 paper
NM_000488.4
p.Q133L
c.398A>T
2 papers
NM_000488.4
p.Q133P
c.398A>C
2 papers
NM_000488.4
p.N128Y
c.382A>T
2 papers
NM_000488.4
p.C127Y
c.380G>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."