Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.Q57H

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
1 paper
NM_001229.5
p.Q57H
c.171G>C
Surrounding Variants
1 paper
NM_001229.5
p.Q57H
c.171G>T
1 paper
NM_001229.5
p.D53D
c.159T>C
2 papers
NM_001229.5
p.R52W
c.154C>T
1 paper
NM_001229.5
p.R51Q
c.152G>A
2 papers
NM_001229.5
p.R65*
c.193C>T
1 paper
NM_001229.5
p.R65L
c.194G>T
1 paper
NM_001229.5
p.R65P
c.194G>C
1 paper
NM_001229.5
p.R65Q
c.194G>A
1 paper
NM_001229.5
p.R65_G66insFs
c.195_196insT
3 papers
NM_001229.5
p.G66A
c.197G>C
1 paper
NM_001229.5
p.A46A
c.138A>T
1 paper
NM_001229.5
p.L70P
c.209T>C
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