Varaico: Literature-Extracted Genetic Variants

Gene:TRAF3
Variant:p.Y425*
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TRAF3

NM_145725.3:p.Y425*

Associated Papers

Human inborn errors of the alternative NF-κB pathway.

Le Voyer T et al.

Journal of Human Immunity, 2026

Inflammatory bowel disease in a young female patient with a novel de novo TRAF3 frameshift variant responsive to ustekinumab: a case report.

Takeuchi I et al.

Intestinal Research, 2025

40181234 (PubMed )
Supplement: ir-2024-00190-Supplementary-Table-1.pdf

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.

Urban B et al.

Journal of Clinical Immunology, 2024

Machine learning models-based on integration of next-generation sequencing testing and tumor cell sizes improve subtype classification of mature B-cell neoplasms.

Mu Y et al.

Frontiers in Oncology, 2023

37601650 (PubMed )
Supplement: Table_1.xlsx › Supplement_Tab.3

Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations.

Rae W et al.

Science Immunology, 2022

Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation.

Berger K et al.

Journal of Personalized Medicine, 2022

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S5
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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."