Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.K139Q

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.K139Q
c.415A>C
Surrounding Variants
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
1 paper
NM_000488.4
p.D141V
c.422A>T
3 papers
NM_000488.4
p.E136_V137Splc
c.409-2A>T
1 paper
NM_000488.4
p.E136_V137Splc
c.409-2A>G
1 paper
NM_000488.4
p.I143L
c.427A>T
1 paper
NM_000488.4
p.S144P
c.430T>C
1 paper
NM_000488.4
p.E136_V137Splc
c.409-11G>T
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