Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.A96E
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CASP9

NM_001229.5:p.A96E

Associated Papers

A histidine switch regulates pH-dependent filament formation by the caspase-9 CARD.

Rawal S et al.

Biorxiv : the Preprint Server for Biology, 2025

40501686 (PubMed )
Supplement: media-1.docx

Rare mutations in apoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects.

Zhou X et al.

Cell Death & Disease, 2018

IFNγ triggers a LIGHT-dependent selective death of motoneurons contributing to the non-cell-autonomous effects of mutant SOD1.

Aebischer J et al.

Cell Death and Differentiation, 2011

Functional analysis of FSP27 protein regions for lipid droplet localization, caspase-dependent apoptosis, and dimerization with CIDEA.

Liu K et al.

American Journal of Physiology. Endocrinology and Metabolism, 2009

AIM2 activates the inflammasome and cell death in response to cytoplasmic DNA.

Fernandes-Alnemri T et al.

Nature, 2009

The protein kinase DYRK1A regulates caspase-9-mediated apoptosis during retina development.

Laguna A et al.

Developmental Cell, 2008

The adaptor protein TRADD activates distinct mechanisms of apoptosis from the nucleus and the cytoplasm.

Bender LM et al.

Cell Death and Differentiation, 2005

Caspase 9 is required for p53-dependent apoptosis and chemosensitivity in a human ovarian cancer cell line.

Wu GS et al.

Oncogene, 2002

Ionizing radiation-induced apoptosis in ataxia-telangiectasia fibroblasts. Roles of caspase-9 and cellular inhibitor of apoptosis protein-1.

Zhang Y et al.

The Journal of Biological Chemistry, 2001

The Peutz-Jegher gene product LKB1 is a mediator of p53-dependent cell death.

Karuman P et al.

Molecular Cell, 2001

F1Aalpha, a death receptor-binding protein homologous to the Caenorhabditis elegans sex-determining protein, FEM-1, is a caspase substrate that mediates apoptosis.

Chan SL et al.

The Journal of Biological Chemistry, 1999

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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."