Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.S99L

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
3 papers
NM_001229.5
p.S99L
c.296C>T
Surrounding Variants
1 paper
NM_001229.5
p.K97T
c.290A>C
1 paper
NM_001229.5
p.K97*
c.289A>T
3 papers
NM_001229.5
p.T102I
c.305C>T
11 papers
NM_001229.5
p.A96E
c.287C>A
1 paper
NM_001229.5
p.T102T
c.306C>G
1 paper
NM_001229.5
p.N105N
c.315C>T
1 paper
NM_001229.5
p.N92D
c.274A>G
3 papers
NM_001229.5
p.R90Q
c.269G>A
2 papers
NM_001229.5
p.L89P
c.266T>C
1 paper
NM_001229.5
p.S87S
c.261G>A
1 paper
NM_001229.5
p.S87L
c.260C>T
1 paper
NM_001229.5
p.P113L
c.338C>T
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