Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.A52D

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.A52D
c.155C>A
Surrounding Variants
1 paper
NM_001085.5
p.N53D
c.157A>G
1 paper
NM_001085.5
p.S51A
c.151T>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.L49*
c.146T>A
1 paper
NM_001085.5
p.F56delFs
c.167delT
1 paper
NM_001085.5
p.G48V
c.143G>T
1 paper
NM_001085.5
p.F56insFs
c.167_168insC
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.F58delFs
c.173delT
1 paper
NM_001085.5
p.L47P
c.140T>C
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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."