Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.F434L

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
3 papers
NM_000488.4
p.F434L
c.1302C>G
Surrounding Variants
3 papers
NM_000488.4
p.F434L
c.1302C>A
1 paper
NM_000488.4
p.F434C
c.1301T>G
5 papers
NM_000488.4
p.F434S
c.1301T>C
3 papers
NM_000488.4
p.F434L
c.1300T>C
1 paper
NM_000488.4
p.K435N
c.1305G>T
1 paper
NM_000488.4
p.K435N
c.1305G>C
1 paper
NM_000488.4
p.A436P
c.1306G>C
9 papers
NM_000488.4
p.A436T
c.1306G>A
2 papers
NM_000488.4
p.T433S
c.1298C>G
2 papers
NM_000488.4
p.A436V
c.1307C>T
6 papers
NM_000488.4
p.A436D
c.1307C>A
3 papers
NM_000488.4
p.T433S
c.1297A>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."