Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.Q221R

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
28 papers
NM_001229.5
p.Q221R
c.662A>G
Surrounding Variants
1 paper
NM_001229.5
p.H224R
c.671A>G
1 paper
NM_001229.5
p.L217R
c.650T>G
1 paper
NM_001229.5
p.L214P
c.641T>C
1 paper
NM_001229.5
p.V231M
c.691G>A
1 paper
NM_001229.5
p.V233I
c.697G>A
8 papers
NM_001229.5
p.H237P
c.710A>C
1 paper
NM_001229.5
p.Q240_A241Splc
c.721-530A>G
1 paper
NM_001229.5
p.A209P
c.625G>C
1 paper
NM_001229.5
p.F199insFs
c.595_596insC
1 paper
NM_001229.5
p.L197P
c.590T>C
1 paper
NM_001229.5
p.S196S
c.588G>A
1 paper
NM_001229.5
p.S195F
c.584C>T
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