Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.L328P

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.L328P
c.983T>C
Surrounding Variants
1 paper
NM_001085.5
p.Q330*
c.988C>T
1 paper
NM_001085.5
p.N325K
c.975C>A
1 paper
NM_001085.5
p.N325K
c.975C>G
1 paper
NM_001085.5
p.L324L
c.972G>A
1 paper
NM_001085.5
p.I333V
c.997A>G
1 paper
NM_001085.5
p.N323S
c.968A>G
1 paper
NM_001085.5
p.I333T
c.998T>C
7 papers
NM_001085.5
p.Y322*
c.966T>A
7 papers
NM_001085.5
p.Y322*
c.966T>G
2 papers
NM_001085.5
p.E334A
c.1001A>C
6 papers
NM_001085.5
p.Y322delFs
c.966delT
1 paper
NM_001085.5
p.E335_A336del2
c.1003_1007del6
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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."