Varaico: Literature-Extracted Genetic Variants

Gene:NFKBIA
Variant:p.L34P
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NFKBIA

NM_020529.3:p.L34P

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

Break down the barriers of auto-inflammation: How to deal with a monogenic auto-inflammatory disease and immuno-haematological features in 2022?

Vergneault H et al.

Immunology, 2023

Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases.

Tanaka T et al.

Frontiers in Immunology, 2022

Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.

Tan EE et al.

The Journal of Clinical Investigation, 2020

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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."