Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.H401Y

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
5 papers
NM_000488.4
p.H401Y
c.1201C>T
Surrounding Variants
4 papers
NM_000488.4
p.H401R
c.1202A>G
2 papers
NM_000488.4
p.H401Q
c.1203T>G
2 papers
NM_000488.4
p.F400S
c.1199T>C
2 papers
NM_000488.4
p.H401Q
c.1203T>A
2 papers
NM_000488.4
p.F400V
c.1198T>G
1 paper
NM_000488.4
p.K402fs
c.1204_1205fs
1 paper
NM_000488.4
p.K402E
c.1204A>G
1 paper
NM_000488.4
p.K402K
c.1206G>A
1 paper
NM_000488.4
p.K402delFs
c.1205delT
1 paper
NM_000488.4
p.A399V
c.1196C>T
1 paper
NM_000488.4
p.A399G
c.1196C>G
1 paper
NM_000488.4
p.A399E
c.1196C>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."