Varaico: Literature-Extracted Genetic Variants

Gene:CASP3
Variant:p.Q217H

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.Q217H
c.651G>C
Surrounding Variants
1 paper
NM_004346.4
p.Q217H
c.651G>T
1 paper
NM_004346.4
p.S218L
c.653C>T
1 paper
NM_004346.4
p.Q217*
c.649C>T
1 paper
NM_004346.4
p.I216V
c.646A>G
1 paper
NM_004346.4
p.W214insFs
c.640_641insT
1 paper
NM_004346.4
p.L223L
c.667C>T
1 paper
NM_004346.4
p.K224E
c.670A>G
1 paper
NM_004346.4
p.K224R
c.671A>G
1 paper
NM_004346.4
p.Q225L
c.674A>T
1 paper
NM_004346.4
p.S209*
c.626C>A
1 paper
NM_004346.4
p.N208S
c.623A>G
1 paper
NM_004346.4
p.R207R
c.621A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."