Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.V378_K379del2

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.V378_K379del2
c.1132_1136del6
Surrounding Variants
1 paper
NM_001085.5
p.V378fs
c.1132_1133fs
1 paper
NM_001085.5
p.K379E
c.1135A>G
1 paper
NM_001085.5
p.A375T
c.1123G>A
1 paper
NM_001085.5
p.A375P
c.1123G>C
1 paper
NM_001085.5
p.T381_L382insATC
c.1141_1145ins9
1 paper
NM_001085.5
p.T370A
c.1108A>G
1 paper
NM_001085.5
p.G369delFs
c.1105delG
1 paper
NM_001085.5
p.L386*
c.1157T>A
1 paper
NM_001085.5
p.E368K
c.1102G>A
1 paper
NM_001085.5
p.D364E
c.1092T>G
1 paper
NM_001085.5
p.R394P
c.1181G>C
1 paper
NM_001085.5
p.H359R
c.1076A>G
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