Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.E112delFs

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.E112delFs
c.335_336delAG
Surrounding Variants
1 paper
NM_001085.5
p.E112_E114del3
c.334_341del9
3 papers
NM_001085.5
p.E112K
c.334G>A
1 paper
NM_001085.5
p.S111P
c.331T>C
1 paper
NM_001085.5
p.A113V
c.338C>T
1 paper
NM_001085.5
p.E109G
c.326A>G
1 paper
NM_001085.5
p.E114K
c.340G>A
1 paper
NM_001085.5
p.E114G
c.341A>G
1 paper
NM_001085.5
p.E109K
c.325G>A
2 papers
NM_001085.5
p.T108M
c.323C>T
1 paper
NM_001085.5
p.L107L
c.321C>A
1 paper
NM_001085.5
p.H116insFs
c.347_348insA
1 paper
NM_001085.5
p.L107V
c.319C>G
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