Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.R78_R79insFs

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.R78_R79insFs
c.233_236dup4
Surrounding Variants
31 papers
NM_000488.4
p.R79H
c.236G>A
3 papers
NM_000488.4
p.V80I
c.238G>A
1 paper
NM_000488.4
p.V80fs
c.238_239fs
35 papers
NM_000488.4
p.R79C
c.235C>T
2 papers
NM_000488.4
p.R79S
c.235C>A
1 paper
NM_000488.4
p.R78P
c.233G>C
4 papers
NM_000488.4
p.R78Q
c.233G>A
1 paper
NM_000488.4
p.W81*
c.242G>A
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.W81*
c.243G>A
1 paper
NM_000488.4
p.R78_W81del0
c.234_242del9
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."