Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.Q96*

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.Q96*
c.286C>T
Surrounding Variants
1 paper
NM_000488.4
p.Q96delFs
c.286delG
4 papers
NM_000488.4
p.Y95C
c.284A>G
1 paper
NM_000488.4
p.Y95S
c.284A>C
1 paper
NM_000488.4
p.T93_F94delFs
c.279_282del4
2 papers
NM_000488.4
p.Y95H
c.283T>C
1 paper
NM_000488.4
p.H97fs
c.289_290fs
1 paper
NM_000488.4
p.F94_Y95insFs
c.282_283insA
1 paper
NM_000488.4
p.F94S
c.281T>C
2 papers
NM_000488.4
p.F94I
c.280T>A
1 paper
NM_000488.4
p.L98delFs
c.292_293delAG
1 paper
NM_000488.4
p.T93S
c.278C>G
1 paper
NM_000488.4
p.T93delFs
c.277delT
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