Varaico: Literature-Extracted Genetic Variants

Gene:NFKB1
Variant:p.T39A
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NFKB1

NM_003998.4:p.T39A

Associated Papers

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

Fliegauf M et al.

Frontiers in Immunology, 2022

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

Li J et al.

The Journal of Experimental Medicine, 2021

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

Luo H et al.

European Journal of Human Genetics : Ejhg, 2021

33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.

Tuijnenburg P et al.

The Journal of Allergy and Clinical Immunology, 2018

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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."