Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.P73L

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
43 papers
NM_000488.4
p.P73L
c.218C>T
Surrounding Variants
1 paper
NM_000488.4
p.K71N
c.213G>T
1 paper
NM_000488.4
p.K71N
c.213G>C
1 paper
NM_000488.4
p.K71*
c.211A>T
1 paper
NM_000488.4
p.N77fs
c.229_230fs
5 papers
NM_000488.4
p.N77H
c.229A>C
1 paper
NM_000488.4
p.E69V
c.206A>T
2 papers
NM_000488.4
p.R78W
c.232C>T
1 paper
NM_000488.4
p.R78G
c.232C>G
1 paper
NM_000488.4
p.R78P
c.233G>C
4 papers
NM_000488.4
p.R78Q
c.233G>A
2 papers
NM_000488.4
p.S68*
c.203C>G
1 paper
NM_000488.4
p.S68*
c.203C>A
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."