Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.G295V

CASP9

385 papers

RefSeq Summary

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as i...

Pfam Domains

CARDaa 6–92UCSCCaspase recruitment domain
Peptidase_C14aa 160–412UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 9

HGNC Alias Symbols

MCH6; ICE-LAP6; APAF-3; PPP1R56

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001229.5
p.G295V
c.884G>T
Surrounding Variants
2 papers
NM_001229.5
p.K292E
c.874A>G
1 paper
NM_001229.5
p.K292Q
c.874A>C
1 paper
NM_001229.5
p.E306A
c.917A>C
1 paper
NM_001229.5
p.E306D
c.918G>T
1 paper
NM_001229.5
p.E306D
c.918G>C
1 paper
NM_001229.5
p.S307F
c.920C>T
4 papers
NM_001229.5
p.P308insFs
c.924dupT
3 papers
NM_001229.5
p.G309fs
c.925_926fs
1 paper
NM_001229.5
p.S310I
c.929G>T
1 paper
NM_001229.5
p.P312R
c.935C>G
3 papers
NM_001229.5
p.D315A
c.944A>C
1 paper
NM_001229.5
p.D315E
c.945T>G
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