Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.V246E

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
3 papers
NM_000488.4
p.V246E
c.737T>A
Surrounding Variants
1 paper
NM_000488.4
p.L245P
c.734T>C
2 papers
NM_000488.4
p.V248G
c.743T>G
1 paper
NM_000488.4
p.L242_T243delFs
c.726_729del4
1 paper
NM_000488.4
p.T250A
c.748A>G
7 papers
NM_000488.4
p.T250I
c.749C>T
1 paper
NM_000488.4
p.I251fs
c.751_752fs
1 paper
NM_000488.4
p.T250delFs
c.750delG
1 paper
NM_000488.4
p.I251T
c.752T>C
1 paper
NM_000488.4
p.I251delFs
c.751_752delAT
1 paper
NM_000488.4
p.E241*
c.721G>T
2 papers
NM_000488.4
p.N240K
c.720T>G
1 paper
NM_000488.4
p.N240K
c.720T>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."