Varaico: Literature-Extracted Genetic Variants

Gene:TRAF3
Variant:p.R118W
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TRAF3

NM_145725.3:p.R118W

Associated Papers

Human inborn errors of the alternative NF-κB pathway.

Le Voyer T et al.

Journal of Human Immunity, 2026

Putative multiple myeloma susceptibility genes identified by exome sequencing of 347 familial and early-onset cases.

Pertesi M et al.

Leukemia, 2026

41254116 (PubMed )
Supplement: 41375_2025_2802_MOESM1_ESM.pdf

Interferons in human inborn errors of disease.

Stine L et al.

Mbio, 2025

Genetics in a Danish Common Variable Immunodeficiency Cohort.

Drabe CH et al.

Journal of Clinical Immunology, 2025

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

Urban B et al.

Journal of Clinical Immunology, 2024

Inborn Errors of Immunity Predisposing to Herpes Simplex Virus Infections of the Central Nervous System.

Skouboe MK et al.

Pathogens (basel, Switzerland), 2023

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

Rae W et al.

Science Immunology, 2022

Dominant Negative TRAF3 Variant With Recurrent Mycobacterium abscessus Infection and Bronchiectasis.

Liew MF et al.

Open Forum Infectious Diseases, 2022

Toll-Like Receptor Signaling in the Establishment and Function of the Immune System.

Aluri J et al.

Cells, 2021

Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.

Argyropoulos KV et al.

Blood Cancer Journal, 2020

33168809 (PubMed )
Supplement: 41408_2020_380_MOESM3_ESM.xlsx › Sheet1

Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.

Suspitsin EN et al.

Clinical Genetics, 2020

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P et al.

Genome Medicine, 2019

Novel GPR34 and CCR6 mutation and distinct genetic profiles in MALT lymphomas of different sites.

Moody S et al.

Haematologica, 2018

29674500 (PubMed )
Supplement: 2018.191601.MOODY_SUPPL.pdf

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

Negative Regulation of Interferon-β Production by Alternative Splicing of Tumor Necrosis Factor Receptor-Associated Factor 3 in Ducks.

Wei X et al.

Frontiers in Immunology, 2018

TRAF3: a novel tumor suppressor gene in macrophages.

Lalani AI et al.

Macrophage, 2015

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Paciolla M et al.

Genes and Immunity, 2015

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.

Lim HK et al.

Neurology, 2014

Human primary immunodeficiencies causing defects in innate immunity.

Wong T et al.

Current Opinion in Allergy and Clinical Immunology, 2013

Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.

Pérez de Diego R et al.

Immunity, 2010

TRAF3: uncovering the real but restricted role in human.

Bowie AG

Immunity, 2010

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