Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.N450I

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.N450I
c.1349A>T
Surrounding Variants
1 paper
NM_000488.4
p.N450fs
c.1348_1349fs
2 papers
NM_000488.4
p.N450D
c.1348A>G
1 paper
NM_000488.4
p.N450H
c.1348A>C
2 papers
NM_000488.4
p.L449delFs
c.1347delC
2 papers
NM_000488.4
p.L449Q
c.1346T>A
1 paper
NM_000488.4
p.I452T
c.1355T>C
1 paper
NM_000488.4
p.P448S
c.1342C>T
1 paper
NM_000488.4
p.I453fs
c.1357_1358fs
1 paper
NM_000488.4
p.I453insFs
c.1357dupA
1 paper
NM_000488.4
p.I453T
c.1358T>C
1 paper
NM_000488.4
p.V447D
c.1340T>A
2 papers
NM_000488.4
p.I444_E446delFs
c.1332_1336del5
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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."