Varaico: Literature-Extracted Genetic Variants

Gene:IKBKB
Variant:p.E518K
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IKBKB

NM_001556.3:p.E518K

Associated Papers

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

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

Sacco K et al.

Journal of Clinical Immunology, 2023

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1
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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."