Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.R14G

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.R14G
c.40A>G
Surrounding Variants
2 papers
NM_000488.4
p.R14Splc
c.42-2A>T
2 papers
NM_000488.4
p.R14Splc
c.42-2A>C
1 paper
NM_000488.4
p.R14K
c.41G>A
1 paper
NM_000488.4
p.V16I
c.46G>A
1 paper
NM_000488.4
p.V16A
c.47T>C
1 paper
NM_000488.4
p.Y17N
c.49T>A
1 paper
NM_000488.4
p.Y17C
c.50A>G
1 paper
NM_000488.4
p.Y17S
c.50A>C
2 papers
NM_000488.4
p.L19M
c.55T>A
1 paper
NM_000488.4
p.L19insFs
c.56_57ins4
1 paper
NM_000488.4
p.L22P
c.65T>C
1 paper
NM_000488.4
p.L22delFs
c.66delC
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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."