Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.R41*

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.R41*
c.121C>T
Surrounding Variants
1 paper
NM_001085.5
p.R41delFs
c.123delA
1 paper
NM_001085.5
p.G42R
c.124G>A
1 paper
NM_001085.5
p.G42R
c.124G>C
1 paper
NM_001085.5
p.G42E
c.125G>A
1 paper
NM_001085.5
p.T43A
c.127A>G
1 paper
NM_001085.5
p.N38del1
c.112_113delAAC
1 paper
NM_001085.5
p.E37A
c.110A>C
1 paper
NM_001085.5
p.E37K
c.109G>A
1 paper
NM_001085.5
p.V45insFs
c.133_134insT
1 paper
NM_001085.5
p.D46insFs
c.137_138insT
1 paper
NM_001085.5
p.D46A
c.137A>C
1 paper
NM_001085.5
p.L47V
c.139C>G
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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."