Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.L83P

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.L83P
c.248T>C
Surrounding Variants
1 paper
NM_000488.4
p.L83Q
c.248T>A
1 paper
NM_000488.4
p.L83L
c.249G>A
1 paper
NM_000488.4
p.S84T
c.250T>A
2 papers
NM_000488.4
p.E82A
c.245A>C
1 paper
NM_000488.4
p.R78_W81del0
c.234_242del9
1 paper
NM_000488.4
p.W81*
c.243G>A
1 paper
NM_000488.4
p.W81*
c.242G>A
1 paper
NM_000488.4
p.A86V
c.257C>T
1 paper
NM_000488.4
p.A86D
c.257C>A
3 papers
NM_000488.4
p.V80I
c.238G>A
1 paper
NM_000488.4
p.V80fs
c.238_239fs
1 paper
NM_000488.4
p.R78_R79insFs
c.233_236dup4
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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."