Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.H121Y

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.H121Y
c.361C>T
Surrounding Variants
1 paper
NM_001085.5
p.L122L
c.366C>G
1 paper
NM_001085.5
p.L123L
c.367C>T
2 papers
NM_001085.5
p.R124C
c.370C>T
1 paper
NM_001085.5
p.T125N
c.374C>A
1 paper
NM_001085.5
p.H116insFs
c.347_348insA
1 paper
NM_001085.5
p.L126_N127delFs
c.378_379delCA
1 paper
NM_001085.5
p.E114G
c.341A>G
1 paper
NM_001085.5
p.N127_Q128ins1
c.381_382insATC
1 paper
NM_001085.5
p.E114K
c.340G>A
1 paper
NM_001085.5
p.A113V
c.338C>T
3 papers
NM_001085.5
p.E112K
c.334G>A
1 paper
NM_001085.5
p.E112delFs
c.335_336delAG
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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."