Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.S214Y

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
2 papers
NM_000488.4
p.S214Y
c.641C>A
Surrounding Variants
1 paper
NM_000488.4
p.R215*
c.643A>T
3 papers
NM_000488.4
p.Q213*
c.637C>T
1 paper
NM_000488.4
p.R215S
c.645A>T
1 paper
NM_000488.4
p.R215S
c.645A>C
1 paper
NM_000488.4
p.E212V
c.635A>T
2 papers
NM_000488.4
p.E212K
c.634G>A
1 paper
NM_000488.4
p.A211S
c.631G>T
1 paper
NM_000488.4
p.A211T
c.631G>A
2 papers
NM_000488.4
p.I218N
c.653T>A
1 paper
NM_000488.4
p.I218I
c.654C>T
12 papers
NM_000488.4
p.N219D
c.655A>G
1 paper
NM_000488.4
p.N219I
c.656A>T
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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."