Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.F179C

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.F179C
c.536T>G
Surrounding Variants
2 papers
NM_000488.4
p.F179L
c.537T>G
2 papers
NM_000488.4
p.F179L
c.535T>C
2 papers
NM_000488.4
p.F179L
c.537T>A
1 paper
NM_000488.4
p.G180delFs
c.539delC
7 papers
NM_000488.4
p.R177C
c.529C>T
2 papers
NM_000488.4
p.K182fs
c.544_545fs
1 paper
NM_000488.4
p.S183P
c.547T>C
1 paper
NM_000488.4
p.K182delFs
c.546delT
2 papers
NM_000488.4
p.L184delFs
c.550delG
2 papers
NM_000488.4
p.T185fs
c.553_554fs
2 papers
NM_000488.4
p.T185A
c.553A>G
1 paper
NM_000488.4
p.L172*
c.515T>G
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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."