Varaico: Literature-Extracted Genetic Variants

Gene:CASP3
Variant:p.H108insFs

CASP3

926 papers

RefSeq Summary

The protein encoded by this gene is a cysteine-aspartic acid protease that plays a central role in the execution-phase of cell apoptosis. The encoded protein cleaves and inactivates poly(ADP-ribose) p...

Pfam Domains

Peptidase_C14aa 44–274UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 3

HGNC Alias Symbols

CPP32; CPP32B; Yama; apopain

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004346.4
p.H108insFs
c.323_324ins2
Surrounding Variants
1 paper
NM_004346.4
p.H108N
c.322C>A
1 paper
NM_004346.4
p.E106A
c.317A>C
1 paper
NM_004346.4
p.K110N
c.330A>C
6 papers
NM_004346.4
p.K105N
c.315A>T
1 paper
NM_004346.4
p.S113T
c.338G>C
1 paper
NM_004346.4
p.V103Splc
c.308-1G>C
2 papers
NM_004346.4
p.V103I
c.307G>A
3 papers
NM_004346.4
p.V103Splc
c.308-4A>C
2 papers
NM_004346.4
p.V115F
c.343G>T
1 paper
NM_004346.4
p.H121Y
c.361C>T
1 paper
NM_004346.4
p.H121_G122ins1
c.363_364insACA
1 paper
NM_004346.4
p.G122C
c.364G>T
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