Varaico: Literature-Extracted Genetic Variants

Gene:NFKB2
Variant:p.S870N
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NFKB2

NM_001322934.2:p.S870N

Associated Papers

Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review.

Fathi N et al.

Journal of Clinical Immunology, 2024

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Le Voyer T et al.

Nature, 2023

37938781 (PubMed )
Supplement: 41586_2023_6717_MOESM1_ESM.pdf

Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility.

Wirasinha RC et al.

The Journal of Experimental Medicine, 2021

A 32-year-old female with relapsing polychondritis and common variable immunodeficiency due to a monogenic mutation in NFKB2.

Sun W et al.

Rheumatology (oxford, England), 2020

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data
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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."