Varaico: Literature-Extracted Genetic Variants

Gene:CHUK
Variant:p.Y580C
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CHUK

NM_001278.5:p.Y580C

Associated Papers

Human inborn errors of the alternative NF-κB pathway.

Le Voyer T et al.

Journal of Human Immunity, 2026

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.

Riller Q et al.

The Journal of Experimental Medicine, 2025

Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans.

Cildir G et al.

Nature Communications, 2024

Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation.

Riller Q et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα).

Bainter W et al.

Science Immunology, 2021

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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."