Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.T418A

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
3 papers
NM_001085.5
p.T418A
c.1252A>G
Surrounding Variants
1 paper
NM_001085.5
p.N419ins2
c.1255_1256ins6
1 paper
NM_001085.5
p.V417I
c.1249G>A
1 paper
NM_001085.5
p.K416fs
c.1246_1247fs
3 papers
NM_001085.5
p.K416delFs
c.1246_1247delAA
1 paper
NM_001085.5
p.K421fs
c.1261_1262fs
3 papers
NM_001085.5
p.M414V
c.1240A>G
1 paper
NM_001085.5
p.F412F
c.1236C>T
1 paper
NM_001085.5
p.F412delFs
c.1235delT
1 paper
NM_001085.5
p.I411V
c.1231A>G
1 paper
NM_001085.5
p.D407N
c.1219G>A
1 paper
NM_001085.5
p.V404F
c.1210G>T
1 paper
NM_001085.5
p.I403I
c.1209T>A
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