Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.R248W
Back to variants list

CASP8

NM_001372051.1:p.R248W

Associated Papers

A Novel Cause of CIDP: Homozygous Hotspot Mutation, c.793 C > T in CASP8 Gene.

Sharma K et al.

Journal of Clinical Immunology, 2025

Correction to: Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Erman B et al.

Journal of Clinical Immunology, 2024

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Erman B et al.

Journal of Clinical Immunology, 2024

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

Targeting p53 pathways: mechanisms, structures, and advances in therapy.

Wang H et al.

Signal Transduction and Targeted Therapy, 2023

C-Terminal p53 Palindromic Tetrapeptide Restores Full Apoptotic Function to Mutant p53 Cancer Cells In Vitro and In Vivo.

Fine RL et al.

Biomedicines, 2023

Rare catastrophes and evolutionary legacies: human germline gene variants in MLKL and the necroptosis signalling pathway.

Garnish SE et al.

Biochemical Society Transactions, 2022

Caspase-8 mutations associated with head and neck cancer differentially retain functional properties related to TRAIL-induced apoptosis and cytokine induction.

Cui Z et al.

Cell Death & Disease, 2021

TP53 Mutations as a Driver of Metastasis Signaling in Advanced Cancer Patients.

Pandey R et al.

Cancers, 2021

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency.

Lehle AS et al.

Gastroenterology, 2019

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

Kanderova V et al.

Haematologica, 2019

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings.

Niemela J et al.

Journal of Clinical Immunology, 2015

The expanding spectrum of the autoimmune lymphoproliferative syndromes.

Oliveira JB

Current Opinion in Pediatrics, 2013

Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency.

Chun HJ et al.

Nature, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."