Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.S194G

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.S194G
c.580A>G
Surrounding Variants
1 paper
NM_000488.4
p.I193T
c.578T>C
1 paper
NM_000488.4
p.E195*
c.583G>T
1 paper
NM_000488.4
p.D192_E195del0
c.574_585del12
1 paper
NM_000488.4
p.D192N
c.574G>A
3 papers
NM_000488.4
p.Q191R
c.572A>G
1 paper
NM_000488.4
p.Q191*
c.571C>T
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.Y198H
c.592T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."