Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.L10L

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.L10L
c.28C>T
Surrounding Variants
1 paper
NM_001085.5
p.L10V
c.28C>G
1 paper
NM_001085.5
p.L10P
c.29T>C
1 paper
NM_001085.5
p.A9V
c.26C>T
8 papers
NM_001085.5
p.A9T
c.25G>A
2 papers
NM_001085.5
p.G11R
c.31G>A
1 paper
NM_001085.5
p.G11R
c.31G>C
1 paper
NM_001085.5
p.A9fs
c.25_26fs
1 paper
NM_001085.5
p.A9_A14del6
c.25_41del18
1 paper
NM_001085.5
p.L12P
c.35T>C
1 paper
NM_001085.5
p.L12L
c.36C>T
1 paper
NM_001085.5
p.L13delFs
c.38delT
1 paper
NM_001085.5
p.L13M
c.37T>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."