Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.G424_R425del1

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.G424_R425del1
c.1272_1274delCGG
Surrounding Variants
6 papers
NM_000488.4
p.R425del1
c.1273_1274delACG
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.R425fs
c.1273_1274fs
19 papers
NM_000488.4
p.S426L
c.1277C>T
10 papers
NM_000488.4
p.R425C
c.1273C>T
2 papers
NM_000488.4
p.S426W
c.1277C>G
1 paper
NM_000488.4
p.S426*
c.1277C>A
1 paper
NM_000488.4
p.R425S
c.1273C>A
12 papers
NM_000488.4
p.G424D
c.1271G>A
10 papers
NM_000488.4
p.G424R
c.1270G>C
1 paper
NM_000488.4
p.G424S
c.1270G>A
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