Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.F254L

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.F254L
c.760T>C
Surrounding Variants
1 paper
NM_001085.5
p.F254insFs
c.760_761insA
1 paper
NM_001085.5
p.F254L
c.762C>A
1 paper
NM_001085.5
p.F254L
c.762C>G
4 papers
NM_001085.5
p.P252A
c.754C>G
1 paper
NM_001085.5
p.P252S
c.754C>T
1 paper
NM_001085.5
p.E257K
c.769G>A
1 paper
NM_001085.5
p.H248Q
c.744C>G
1 paper
NM_001085.5
p.C261R
c.781T>C
1 paper
NM_001085.5
p.L246F
c.738G>C
1 paper
NM_001085.5
p.L246F
c.738G>T
1 paper
NM_001085.5
p.M244V
c.730A>G
1 paper
NM_001085.5
p.T269A
c.805A>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."