Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.V206delFs

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.V206delFs
c.616delG
Surrounding Variants
1 paper
NM_001085.5
p.V206G
c.617T>G
1 paper
NM_001085.5
p.L207L
c.619C>T
1 paper
NM_001085.5
p.T203A
c.607A>G
1 paper
NM_001085.5
p.S201S
c.603G>A
1 paper
NM_001085.5
p.S201_Q202insFs
c.603_604insG
1 paper
NM_001085.5
p.D200G
c.599A>G
1 paper
NM_001085.5
p.F212I
c.634T>A
1 paper
NM_001085.5
p.D198N
c.592G>A
1 paper
NM_001085.5
p.D194A
c.581A>C
1 paper
NM_001085.5
p.I192M
c.576C>G
1 paper
NM_001085.5
p.I192_M205del14
c.574_614del42
1 paper
NM_001085.5
p.K191delFs
c.573delA
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