Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.S169A

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
5 papers
NM_000488.4
p.S169A
c.505T>G
Surrounding Variants
2 papers
NM_000488.4
p.S169P
c.505T>C
1 paper
NM_000488.4
p.S169F
c.506C>T
1 paper
NM_000488.4
p.K168I
c.503A>T
2 papers
NM_000488.4
p.S170P
c.508T>C
1 paper
NM_000488.4
p.K168E
c.502A>G
4 papers
NM_000488.4
p.N167T
c.500A>C
1 paper
NM_000488.4
p.K171*
c.511A>T
1 paper
NM_000488.4
p.L172V
c.514T>G
1 paper
NM_000488.4
p.S170_K171delFs
c.510_513del4
1 paper
NM_000488.4
p.K165insFs
c.493dupA
2 papers
NM_000488.4
p.K165delFs
c.495delT
2 papers
NM_000488.4
p.A166fs
c.496_497fs
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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."