Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.G424R

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
10 papers
NM_000488.4
p.G424R
c.1270G>C
Surrounding Variants
1 paper
NM_000488.4
p.G424S
c.1270G>A
12 papers
NM_000488.4
p.G424D
c.1271G>A
1 paper
NM_000488.4
p.R425fs
c.1273_1274fs
2 papers
NM_000488.4
p.A423T
c.1267G>A
10 papers
NM_000488.4
p.R425C
c.1273C>T
1 paper
NM_000488.4
p.R425S
c.1273C>A
2 papers
NM_000488.4
p.R425P
c.1274G>C
17 papers
NM_000488.4
p.R425H
c.1274G>A
1 paper
NM_000488.4
p.I422T
c.1265T>C
1 paper
NM_000488.4
p.G424_R425del1
c.1272_1274delCGG
1 paper
NM_000488.4
p.I422delFs
c.1264delT
6 papers
NM_000488.4
p.R425del1
c.1273_1274delACG
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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."