Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.R11Q

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
19 papers
NM_001229.5
p.R11Q
c.32G>A
Surrounding Variants
1 paper
NM_001229.5
p.R11R
c.33G>T
1 paper
NM_001229.5
p.R11G
c.31C>G
1 paper
NM_001229.5
p.L14Q
c.41T>A
1 paper
NM_001229.5
p.R15W
c.43C>T
1 paper
NM_001229.5
p.R15L
c.44G>T
1 paper
NM_001229.5
p.R15P
c.44G>C
1 paper
NM_001229.5
p.R7Q
c.20G>A
1 paper
NM_001229.5
p.R6P
c.17G>C
1 paper
NM_001229.5
p.R6Q
c.17G>A
1 paper
NM_001229.5
p.V17G
c.50T>G
1 paper
NM_001229.5
p.D5H
c.13G>C
1 paper
NM_001229.5
p.V17V
c.51G>A
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