Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.Q191R

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
3 papers
NM_000488.4
p.Q191R
c.572A>G
Surrounding Variants
1 paper
NM_000488.4
p.Q191*
c.571C>T
1 paper
NM_000488.4
p.D192N
c.574G>A
1 paper
NM_000488.4
p.Y190*
c.570C>G
1 paper
NM_000488.4
p.Y190*
c.570C>A
2 papers
NM_000488.4
p.Y190C
c.569A>G
1 paper
NM_000488.4
p.Y190S
c.569A>C
2 papers
NM_000488.4
p.Y190H
c.568T>C
1 paper
NM_000488.4
p.I193T
c.578T>C
1 paper
NM_000488.4
p.S194G
c.580A>G
1 paper
NM_000488.4
p.E188G
c.563A>G
3 papers
NM_000488.4
p.N187K
c.561T>G
3 papers
NM_000488.4
p.N187K
c.561T>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."