Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.R164fs

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.R164fs
c.490_491fs
Surrounding Variants
4 papers
NM_000488.4
p.R164*
c.490C>T
1 paper
NM_000488.4
p.Y163*
c.489T>G
1 paper
NM_000488.4
p.Y163*
c.489T>A
1 paper
NM_000488.4
p.R164Q
c.491G>A
1 paper
NM_000488.4
p.R164delFs
c.490delG
1 paper
NM_000488.4
p.Y163fs
c.487_488fs
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
2 papers
NM_000488.4
p.R161L
c.482G>T
9 papers
NM_000488.4
p.R161Q
c.482G>A
8 papers
NM_000488.4
p.R161*
c.481C>T
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