Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.L322P
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IKBKG

NM_001099857.5:p.L322P

Associated Papers

An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.

Mou W et al.

Journal of Clinical Immunology, 2023

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Conte MI et al.

Human Mutation, 2014

The trimerization domain of NEMO is composed of the interacting C-terminal CC2 and LZ coiled-coil subdomains.

Agou F et al.

The Journal of Biological Chemistry, 2004

The carboxyl-terminal region of IkappaB kinase gamma (IKKgamma) is required for full IKK activation.

Makris C et al.

Molecular and Cellular Biology, 2002

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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."