Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.K464insFs

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.K464insFs
c.1390dupA
Surrounding Variants
1 paper
NM_000488.4
p.*465fs
c.1393_1394fs
1 paper
NM_000488.4
p.K464*
c.1390A>T
2 papers
NM_000488.4
p.C462_K464del3
c.1384_1391del9
1 paper
NM_000488.4
p.C462del1
c.1384_1385delACA
1 paper
NM_000488.4
p.C462*
c.1386T>A
1 paper
NM_000488.4
p.C462F
c.1385G>T
3 papers
NM_000488.4
p.C462Y
c.1385G>A
3 papers
NM_000488.4
p.V458_C462del0
c.1373_1384del12
1 paper
NM_000488.4
p.C462R
c.1384T>C
4 papers
NM_000488.4
p.P461L
c.1382C>T
5 papers
NM_000488.4
p.P461S
c.1381C>T
1 paper
NM_000488.4
p.P461A
c.1381C>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."