Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.Y395fs

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
2 papers
NM_000488.4
p.Y395fs
c.1183_1184fs
Surrounding Variants
1 paper
NM_000488.4
p.Y395fs
c.1183_1184fs
2 papers
NM_000488.4
p.Y395*
c.1185T>G
3 papers
NM_000488.4
p.Y395*
c.1185T>A
4 papers
NM_000488.4
p.S397L
c.1190C>T
1 paper
NM_000488.4
p.D398E
c.1194T>G
1 paper
NM_000488.4
p.D398E
c.1194T>A
1 paper
NM_000488.4
p.R391insFs
c.1171dupC
2 papers
NM_000488.4
p.R391Q
c.1172G>A
10 papers
NM_000488.4
p.R391*
c.1171C>T
1 paper
NM_000488.4
p.R391fs
c.1171_1172fs
1 paper
NM_000488.4
p.A399V
c.1196C>T
1 paper
NM_000488.4
p.A399G
c.1196C>G
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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."