Varaico: Literature-Extracted Genetic Variants

Gene:NFKBIA
Variant:p.S36P
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NFKBIA

NM_020529.3:p.S36P

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

Base-editing mutagenesis maps alleles to tune human T cell functions.

Schmidt R et al.

Nature, 2024

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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."