Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.I444_R445delFs

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.I444_R445delFs
c.1332_1333delTT
Surrounding Variants
4 papers
NM_000488.4
p.R445K
c.1334G>A
3 papers
NM_000488.4
p.R445fs
c.1333_1334fs
1 paper
NM_000488.4
p.E446K
c.1336G>A
2 papers
NM_000488.4
p.F443delFs
c.1329delA
2 papers
NM_000488.4
p.I444fs
c.1330_1331fs
1 paper
NM_000488.4
p.I444_E446delFs
c.1331_1337del7
1 paper
NM_000488.4
p.V447D
c.1340T>A
2 papers
NM_000488.4
p.I444_E446delFs
c.1332_1336del5
2 papers
NM_000488.4
p.F443fs
c.1327_1328fs
1 paper
NM_000488.4
p.P448S
c.1342C>T
4 papers
NM_000488.4
p.L441P
c.1322T>C
2 papers
NM_000488.4
p.L449Q
c.1346T>A
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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."