Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.Y198N

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.Y198N
c.592T>A
Surrounding Variants
1 paper
NM_000488.4
p.Y198H
c.592T>C
1 paper
NM_000488.4
p.Y198C
c.593A>G
4 papers
NM_000488.4
p.G199R
c.595G>C
4 papers
NM_000488.4
p.G199R
c.595G>A
1 paper
NM_000488.4
p.G199E
c.596G>A
1 paper
NM_000488.4
p.D192_E195del0
c.574_585del12
1 paper
NM_000488.4
p.A200P
c.598G>C
1 paper
NM_000488.4
p.A200D
c.599C>A
1 paper
NM_000488.4
p.E195*
c.583G>T
1 paper
NM_000488.4
p.L202I
c.604C>A
1 paper
NM_000488.4
p.S194G
c.580A>G
1 paper
NM_000488.4
p.I193T
c.578T>C
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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."