Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.E285delFs

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.E285delFs
c.854delA
Surrounding Variants
1 paper
NM_001085.5
p.E285K
c.853G>A
1 paper
NM_001085.5
p.E288V
c.863A>T
2 papers
NM_001085.5
p.M290L
c.868A>C
2 papers
NM_001085.5
p.M290L
c.868A>T
1 paper
NM_001085.5
p.M290delins
c.868_869delinsCA
1 paper
NM_001085.5
p.M290K
c.869T>A
1 paper
NM_001085.5
p.M290T
c.869T>C
1 paper
NM_001085.5
p.F276F
c.828C>T
1 paper
NM_001085.5
p.E294Q
c.880G>C
1 paper
NM_001085.5
p.T295T
c.885C>A
2 papers
NM_001085.5
p.A274T
c.820G>A
1 paper
NM_001085.5
p.A274P
c.820G>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."