Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.A28V

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.A28V
c.83C>T
Surrounding Variants
1 paper
NM_001229.5
p.D27A
c.80A>C
1 paper
NM_001229.5
p.S31N
c.92G>A
8 papers
NM_001229.5
p.S31S
c.93C>T
1 paper
NM_001229.5
p.D23N
c.67G>A
3 papers
NM_001229.5
p.V22V
c.66G>A
1 paper
NM_001229.5
p.F35S
c.104T>C
1 paper
NM_001229.5
p.R36G
c.106A>G
3 papers
NM_001229.5
p.E19A
c.56A>C
1 paper
NM_001229.5
p.E19Q
c.55G>C
1 paper
NM_001229.5
p.H38D
c.112C>G
1 paper
NM_001229.5
p.H38N
c.112C>A
1 paper
NM_001229.5
p.E18V
c.53A>T
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