Varaico: Literature-Extracted Genetic Variants

Gene:IKBKB
Variant:p.T559M
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IKBKB

NM_001556.3:p.T559M

Associated Papers

African-ancestry-specific variant IKKβ p.Glu502Lys confers high lupus risk.

Thorlacius GE et al.

Nature Genetics, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

IKBKB gain of function: An inborn error with clinical heterogeneity progressing toward combined immunodeficiency.

Körholz J et al.

The Journal of Allergy and Clinical Immunology, 2025

NF-κB pathway variants in Iranian patients with inborn errors of immunity.

Fathi N et al.

Expert Review of Clinical Immunology, 2025

A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.

Sacco K et al.

Journal of Clinical Immunology, 2023

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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."