Varaico: Literature-Extracted Genetic Variants

Gene:CASP3
Variant:p.L46*

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.L46*
c.137T>G
Surrounding Variants
1 paper
NM_004346.4
p.L46*
c.137T>A
1 paper
NM_004346.4
p.L46F
c.138A>T
1 paper
NM_004346.4
p.G45_L46delFs
c.135_136delAA
1 paper
NM_004346.4
p.C47Y
c.140G>A
1 paper
NM_004346.4
p.M44T
c.131T>C
1 paper
NM_004346.4
p.D28_M44delFs
c.84_130del47
1 paper
NM_004346.4
p.E43K
c.127G>A
1 paper
NM_004346.4
p.I50S
c.149T>G
1 paper
NM_004346.4
p.I50T
c.149T>C
1 paper
NM_004346.4
p.Y41F
c.122A>T
1 paper
NM_004346.4
p.N52D
c.154A>G
1 paper
NM_004346.4
p.D40A
c.119A>C
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