Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.L64_P69delFs

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.L64_P69delFs
c.192_205del14
Surrounding Variants
1 paper
NM_001085.5
p.Q63R
c.188A>G
1 paper
NM_001085.5
p.Q63L
c.188A>T
1 paper
NM_001085.5
p.P69T
c.205C>A
2 papers
NM_001085.5
p.P69S
c.205C>T
1 paper
NM_001085.5
p.S59T
c.176G>C
1 paper
NM_001085.5
p.D70N
c.208G>A
1 paper
NM_001085.5
p.F58delFs
c.173delT
1 paper
NM_001085.5
p.F56insFs
c.167_168insC
1 paper
NM_001085.5
p.F56delFs
c.167delT
1 paper
NM_001085.5
p.N53D
c.157A>G
1 paper
NM_001085.5
p.S76P
c.226T>C
1 paper
NM_001085.5
p.A52D
c.155C>A
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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."