Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.L205delFs

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.L205delFs
c.613delG
Surrounding Variants
6 papers
NM_000488.4
p.L205P
c.614T>C
1 paper
NM_000488.4
p.L205fs
c.613_614fs
1 paper
NM_000488.4
p.Q203*
c.607C>T
1 paper
NM_000488.4
p.Q203insFs
c.607_608insG
1 paper
NM_000488.4
p.F207del1
c.619_620delGAA
2 papers
NM_000488.4
p.K208N
c.624G>T
2 papers
NM_000488.4
p.K208N
c.624G>C
2 papers
NM_000488.4
p.K208K
c.624G>A
1 paper
NM_000488.4
p.L202I
c.604C>A
1 paper
NM_000488.4
p.K208_E209Splc
c.624+1G>T
1 paper
NM_000488.4
p.K208_E209Splc
c.624+2T>A
1 paper
NM_000488.4
p.A200D
c.599C>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."