Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.P453L
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CASP8

NM_001080125.2:p.P453L

Associated Papers

Hallmarks of a genomically distinct subclass of head and neck cancer.

Muijlwijk T et al.

Nature Communications, 2024

39428388 (PubMed )
Supplement: 41467_2024_53390_MOESM4_ESM.xlsx › 3._List_of_all_somatic_variants

A rare immunological disease, caspase 8 deficiency: case report and literature review.

Bazgir N et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2023

Caspase-8 mutants activate Nrf2 via phosphorylating SQSTM1 to protect against oxidative stress in esophageal squamous cell carcinoma.

Li L et al.

Free Radical Biology & Medicine, 2022

Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Nguyen HT et al.

Frontiers in Oncology, 2022

36578946 (PubMed )
Supplement: DataSheet_2.xlsx › Variants_detected_in_FFPE

Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8.

Kanderova V et al.

Haematologica, 2019

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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."