Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.F246Y

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.F246Y
c.737T>A
Surrounding Variants
1 paper
NM_001229.5
p.Q245P
c.734A>C
1 paper
NM_001229.5
p.G248E
c.743G>A
3 papers
NM_001229.5
p.Y251C
c.752A>G
1 paper
NM_001229.5
p.Q240_A241Splc
c.721-1G>C
1 paper
NM_001229.5
p.V258A
c.773T>C
1 paper
NM_001229.5
p.V264M
c.790G>A
1 paper
NM_001229.5
p.G255_F267delFs
c.765_799del35
1 paper
NM_001229.5
p.C272S
c.814T>A
1 paper
NM_001229.5
p.C272S
c.815G>C
1 paper
NM_001229.5
p.L281L
c.843C>G
3 papers
NM_001229.5
p.C287S
c.859T>A
3 papers
NM_001229.5
p.C287S
c.860G>C
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