Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.R192C

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
4 papers
NM_001229.5
p.R192C
c.574C>T
Surrounding Variants
3 papers
NM_001229.5
p.R191G
c.571C>G
2 papers
NM_001229.5
p.R193H
c.578G>A
1 paper
NM_001229.5
p.S195_S196insT
c.583_587ins3
1 paper
NM_001229.5
p.S195F
c.584C>T
1 paper
NM_001229.5
p.S196S
c.588G>A
1 paper
NM_001229.5
p.L197P
c.590T>C
1 paper
NM_001229.5
p.D186Y
c.556G>T
1 paper
NM_001229.5
p.I185M
c.555C>G
1 paper
NM_001229.5
p.F199insFs
c.595_596insC
1 paper
NM_001229.5
p.R180H
c.539G>A
2 papers
NM_001229.5
p.R180C
c.538C>T
1 paper
NM_001229.5
p.R178C
c.532C>T
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