Varaico: Literature-Extracted Genetic Variants

Gene:NFKB1
Variant:p.R57C
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NFKB1

NM_003998.4:p.R57C

Associated Papers

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.

Fliegauf M et al.

Frontiers in Immunology, 2022

36105815 (PubMed )
Supplement: DataSheet_1.pdf

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.

Li J et al.

The Journal of Experimental Medicine, 2021

A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage.

Fliegauf M et al.

Frontiers in Immunology, 2021

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Rojas-Restrepo J et al.

Frontiers in Immunology, 2021

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

Lorenzini T et al.

The Journal of Allergy and Clinical Immunology, 2020

Polymorphisms of FCRL3 in a Chinese population with Vogt-Koyanagi-Harada (VKH) syndrome.

Li K et al.

Molecular Vision, 2009

Association between polymorphisms of FCRL3, a non-HLA gene, and Behçet's disease in a Chinese population with ophthalmic manifestations.

Li K et al.

Molecular Vision, 2008

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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."