Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.D149A

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.D149A
c.446A>C
Surrounding Variants
7 papers
NM_000488.4
p.Q150P
c.449A>C
10 papers
NM_000488.4
p.S148P
c.442T>C
1 paper
NM_000488.4
p.I151F
c.451A>T
1 paper
NM_000488.4
p.I151T
c.452T>C
3 papers
NM_000488.4
p.T147I
c.440C>T
1 paper
NM_000488.4
p.K146delFs
c.438delT
1 paper
NM_000488.4
p.K146del1
c.436_437delTTT
16 papers
NM_000488.4
p.T147A
c.439A>G
2 papers
NM_000488.4
p.H152Y
c.454C>T
1 paper
NM_000488.4
p.K146K
c.438A>G
3 papers
NM_000488.4
p.K146*
c.436A>T
6 papers
NM_000488.4
p.K146E
c.436A>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."