Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.D311G
Back to variants list

IKBKG

NM_001099857.5:p.D311G

Associated Papers

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

Fathi N et al.

Expert Review of Clinical Immunology, 2025

Two NEMO-like Ubiquitin-Binding Domains in CEP55 Differently Regulate Cytokinesis.

Said Halidi KN et al.

Iscience, 2019

Inhibition of Canonical NF-κB Signaling by a Small Molecule Targeting NEMO-Ubiquitin Interaction.

Vincendeau M et al.

Scientific Reports, 2016

Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.

Ramírez-Alejo N et al.

Clinical Immunology (orlando, Fla.), 2015

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Paciolla M et al.

Genes and Immunity, 2015

EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.

Fusco F et al.

International Reviews of Immunology, 2015

Linear ubiquitination-mediated NF-κB regulation and its related disorders.

Tokunaga F

Journal of Biochemistry, 2013

Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation.

Imamura M et al.

Journal of Clinical Immunology, 2011

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.

Hubeau M et al.

Blood, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."