Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.A419V

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.A419V
c.1256C>T
Surrounding Variants
1 paper
NM_000488.4
p.A419fs
c.1255_1256fs
3 papers
NM_000488.4
p.V420L
c.1258G>C
1 paper
NM_000488.4
p.T418I
c.1253C>T
1 paper
NM_000488.4
p.S417fs
c.1249_1250fs
2 papers
NM_000488.4
p.I422fs
c.1264_1265fs
3 papers
NM_000488.4
p.A416insFs
c.1247dupC
1 paper
NM_000488.4
p.I422T
c.1265T>C
1 paper
NM_000488.4
p.I422delFs
c.1264delT
45 papers
NM_000488.4
p.A416S
c.1246G>T
9 papers
NM_000488.4
p.A416P
c.1246G>C
1 paper
NM_000488.4
p.A414del1
c.1240_1241delTGC
2 papers
NM_000488.4
p.A423T
c.1267G>A
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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."