Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.R116P

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.R116P
c.347G>C
Surrounding Variants
2 papers
NM_001229.5
p.R116C
c.346C>T
1 paper
NM_001229.5
p.R116_K117insT
c.346_350ins3
1 paper
NM_001229.5
p.I115F
c.343A>T
1 paper
NM_001229.5
p.K117K
c.351A>G
1 paper
NM_001229.5
p.P113L
c.338C>T
2 papers
NM_001229.5
p.P123L
c.368C>T
1 paper
NM_001229.5
p.E124A
c.371A>C
1 paper
NM_001229.5
p.E124E
c.372A>G
1 paper
NM_001229.5
p.T125I
c.374C>T
1 paper
NM_001229.5
p.N105N
c.315C>T
1 paper
NM_001229.5
p.P128P
c.384A>T
1 paper
NM_001229.5
p.T102T
c.306C>G
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