Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.N219K

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.N219K
c.657C>G
Surrounding Variants
1 paper
NM_000488.4
p.N219K
c.657C>A
1 paper
NM_000488.4
p.K220*
c.658A>T
1 paper
NM_000488.4
p.N219I
c.656A>T
2 papers
NM_000488.4
p.I218del1
c.652_653delGAT
1 paper
NM_000488.4
p.K220fs
c.658_659fs
12 papers
NM_000488.4
p.N219D
c.655A>G
1 paper
NM_000488.4
p.I218I
c.654C>T
2 papers
NM_000488.4
p.W221R
c.661T>C
2 papers
NM_000488.4
p.I218N
c.653T>A
1 paper
NM_000488.4
p.W221R
c.661T>A
1 paper
NM_000488.4
p.N219_K220delFs
c.657_660del4
2 papers
NM_000488.4
p.W221S
c.662G>C
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