Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.K157R

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
4 papers
NM_000488.4
p.K157R
c.470A>G
Surrounding Variants
3 papers
NM_000488.4
p.L158P
c.473T>C
2 papers
NM_000488.4
p.L158Q
c.473T>A
1 paper
NM_000488.4
p.A156S
c.466G>T
1 paper
NM_000488.4
p.A156P
c.466G>C
4 papers
NM_000488.4
p.F155del1
c.463_464delAAA
1 paper
NM_000488.4
p.F155fs
c.463_464fs
6 papers
NM_000488.4
p.F154_F155del1
c.462_464delAAG
4 papers
NM_000488.4
p.F155C
c.464T>G
1 paper
NM_000488.4
p.F155S
c.464T>C
2 papers
NM_000488.4
p.C160Y
c.479G>A
2 papers
NM_000488.4
p.C160W
c.480C>G
1 paper
NM_000488.4
p.C160*
c.480C>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."