Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA3
Variant:p.L5F

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.L5F
c.15A>T
Surrounding Variants
1 paper
NM_001085.5
p.L5F
c.15A>C
1 paper
NM_001085.5
p.P6L
c.17C>T
1 paper
NM_001085.5
p.L5_P6insAA
c.13_17ins6
2 papers
NM_001085.5
p.M4I
c.12G>C
1 paper
NM_001085.5
p.P6P
c.18T>C
3 papers
NM_001085.5
p.R3S
c.9A>T
1 paper
NM_001085.5
p.R3_L5del0
c.9_14del6
1 paper
NM_001085.5
p.R3R
c.7A>C
1 paper
NM_001085.5
p.A9_A14del6
c.25_41del18
1 paper
NM_001085.5
p.E2insFs
c.6dupG
1 paper
NM_001085.5
p.E2delFs
c.6delG
8 papers
NM_001085.5
p.A9T
c.25G>A
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