Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.Q228H

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.Q228H
c.684G>T
Surrounding Variants
1 paper
NM_001085.5
p.Q228H
c.684G>C
1 paper
NM_001085.5
p.H227insFs
c.680dupA
1 paper
NM_001085.5
p.T226I
c.677C>T
1 paper
NM_001085.5
p.Y232Y
c.696C>T
1 paper
NM_001085.5
p.D222G
c.665A>G
1 paper
NM_001085.5
p.F221C
c.662T>G
1 paper
NM_001085.5
p.F221fs
c.661_662fs
1 paper
NM_001085.5
p.P220L
c.659C>T
1 paper
NM_001085.5
p.K237R
c.710A>G
1 paper
NM_001085.5
p.V239insFs
c.715dupG
1 paper
NM_001085.5
p.A215Splc
c.644-1G>A
1 paper
NM_001085.5
p.A215_Q224delFs
c.645_670del26
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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."