Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.D141V

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.D141V
c.422A>T
Surrounding Variants
1 paper
NM_000488.4
p.I143L
c.427A>T
2 papers
NM_000488.4
p.K139Q
c.415A>C
1 paper
NM_000488.4
p.S144P
c.430T>C
2 papers
NM_000488.4
p.E145K
c.433G>A
4 papers
NM_000488.4
p.V137A
c.410T>C
1 paper
NM_000488.4
p.V137L
c.409G>T
1 paper
NM_000488.4
p.V137L
c.409G>C
2 papers
NM_000488.4
p.E136_V137Splc
c.409-1G>T
2 papers
NM_000488.4
p.E136_V137Splc
c.409-1G>C
1 paper
NM_000488.4
p.E136_V137Splc
c.409-1G>A
3 papers
NM_000488.4
p.K146*
c.436A>T
6 papers
NM_000488.4
p.K146E
c.436A>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."