Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.C163S

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
2 papers
NM_001229.5
p.C163S
c.487T>A
Surrounding Variants
2 papers
NM_001229.5
p.C163S
c.488G>C
1 paper
NM_001229.5
p.N167S
c.500A>G
2 papers
NM_001229.5
p.N168S
c.503A>G
1 paper
NM_001229.5
p.M157V
c.469A>G
4 papers
NM_001229.5
p.R173C
c.517C>T
12 papers
NM_001229.5
p.R173H
c.518G>A
1 paper
NM_001229.5
p.G176R
c.526G>C
1 paper
NM_001229.5
p.G176R
c.526G>A
1 paper
NM_001229.5
p.R178C
c.532C>T
2 papers
NM_001229.5
p.R180C
c.538C>T
1 paper
NM_001229.5
p.R180H
c.539G>A
1 paper
NM_001229.5
p.I185M
c.555C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."