Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.V146G
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IKBKG

NM_001099857.5:p.V146G

Associated Papers

Clinical relevance of loss-of-function mutations of NEMO/IKBKG.

Wang J et al.

Genes & Diseases, 2025

A conserved core region of the scaffold NEMO is essential for signal-induced conformational change and liquid-liquid phase separation.

DiRusso CJ et al.

The Journal of Biological Chemistry, 2023

Structurally plastic NEMO and oligomerization prone IKK2 subunits define the behavior of human IKK2:NEMO complexes in solution.

Ko MS et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2020

Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.

Frans G et al.

Journal of Clinical Immunology, 2017

Hematopoietic stem cell transplantation for RelB deficiency.

Ovadia A et al.

The Journal of Allergy and Clinical Immunology, 2017

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C et al.

Blood, 2017

A novel missense mutation in the nuclear factor-κB essential modulator (NEMO) gene resulting in impaired activation of the NF-κB pathway and a unique clinical phenotype presenting as MRSA subdural empyema.

Devora GA et al.

Journal of Clinical Immunology, 2010

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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."