Varaico: Literature-Extracted Genetic Variants

Gene:NFKB1
Variant:p.K244Splc
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NFKB1

NM_003998.4:p.K244Splc

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

A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.

Nakatani N et al.

Human Genome Variation, 2024

Genetic mutations in pyoderma gangrenosum, hidradenitis suppurativa, and associated autoinflammatory syndromes: Insights into pathogenic mechanisms and shared pathways.

Satoh TK

The Journal of Dermatology, 2024

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

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

de Valles-Ibáñez G et al.

Frontiers in Immunology, 2018

29867916 (PubMed )
Supplement: data_sheet_1.PDF

Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease-Molecular Mechanisms and Consequences.

Hoeger B et al.

Frontiers in Immunology, 2017

Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.

Fliegauf M et al.

American Journal of Human Genetics, 2015

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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."