Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.H33Q

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.H33Q
c.99C>G
Surrounding Variants
1 paper
NM_000488.4
p.H33insFs
c.98dupA
1 paper
NM_000488.4
p.H33Q
c.99C>A
1 paper
NM_000488.4
p.G34W
c.100G>T
1 paper
NM_000488.4
p.G34A
c.101G>C
1 paper
NM_000488.4
p.C32W
c.96T>G
1 paper
NM_000488.4
p.C32*
c.96T>A
1 paper
NM_000488.4
p.C32Y
c.95G>A
1 paper
NM_000488.4
p.C32R
c.94T>C
1 paper
NM_000488.4
p.T31T
c.93C>T
1 paper
NM_000488.4
p.S35_P36insFs
c.105_106insT
1 paper
NM_000488.4
p.P36S
c.106C>T
1 paper
NM_000488.4
p.P36T
c.106C>A
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