Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.P439T

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
17 papers
NM_000488.4
p.P439T
c.1315C>A
Surrounding Variants
1 paper
NM_000488.4
p.P439S
c.1315C>T
4 papers
NM_000488.4
p.P439A
c.1315C>G
3 papers
NM_000488.4
p.P439L
c.1316C>T
1 paper
NM_000488.4
p.R438M
c.1313G>T
1 paper
NM_000488.4
p.R438K
c.1313G>A
1 paper
NM_000488.4
p.R438delFs
c.1312delT
1 paper
NM_000488.4
p.F440L
c.1318T>C
1 paper
NM_000488.4
p.R438fs
c.1312_1313fs
1 paper
NM_000488.4
p.F440fs
c.1318_1319fs
2 papers
NM_000488.4
p.R438G
c.1312A>G
1 paper
NM_000488.4
p.F440S
c.1319T>C
3 papers
NM_000488.4
p.N437K
c.1311C>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."