Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.D46insFs

SERPINA3

467 papers

RefSeq Summary

The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of ...

Pfam Domains

Serpinaa 51–420UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family A member 3

HGNC Previous Symbol

AACT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001085.5
p.D46insFs
c.137_138insT
Surrounding Variants
1 paper
NM_001085.5
p.D46A
c.137A>C
1 paper
NM_001085.5
p.L47V
c.139C>G
1 paper
NM_001085.5
p.L47P
c.140T>C
1 paper
NM_001085.5
p.V45insFs
c.133_134insT
1 paper
NM_001085.5
p.G48*
c.142G>T
1 paper
NM_001085.5
p.G48_L49del1
c.143_145delGAT
1 paper
NM_001085.5
p.G48V
c.143G>T
1 paper
NM_001085.5
p.L49*
c.146T>A
1 paper
NM_001085.5
p.T43A
c.127A>G
1 paper
NM_001085.5
p.A50T
c.148G>A
1 paper
NM_001085.5
p.A50S
c.148G>T
1 paper
NM_001085.5
p.G42E
c.125G>A
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