Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.Q171*

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.Q171*
c.511C>T
Surrounding Variants
1 paper
NM_001085.5
p.Q171Q
c.513G>A
1 paper
NM_001085.5
p.D169G
c.506A>G
1 paper
NM_001085.5
p.S173del1
c.517_518delTCA
1 paper
NM_001085.5
p.S173P
c.517T>C
1 paper
NM_001085.5
p.A167P
c.499G>C
1 paper
NM_001085.5
p.F166L
c.496T>C
1 paper
NM_001085.5
p.A176D
c.527C>A
1 paper
NM_001085.5
p.A176G
c.527C>G
1 paper
NM_001085.5
p.K177*
c.529A>T
1 paper
NM_001085.5
p.E164G
c.491A>G
2 papers
NM_001085.5
p.E164V
c.491A>T
1 paper
NM_001085.5
p.D182V
c.545A>T
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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."