Varaico: Literature-Extracted Genetic Variants

Gene:NFKBIA
Variant:p.M37R
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NFKBIA

NM_020529.3:p.M37R

Associated Papers

A germline IκBα mutation outside the signal reception domain blocks nuclear translocation of NFκB1 and associates with autoinflammation-like features.

Elsayed A et al.

Annals of the Rheumatic Diseases, 2025

A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response.

Wen W et al.

Genes & Diseases, 2022

Anhidrotic ectodermal dysplasia: a new mutation.

Giancane G et al.

The Journal of Allergy and Clinical Immunology, 2013

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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."