Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.Q157P
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IKBKG

NM_001099857.5:p.Q157P

Associated Papers

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

Wang J et al.

Genes & Diseases, 2025

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

A Central Region of NF-κB Essential Modulator Is Required for IKKβ-Induced Conformational Change and for Signal Propagation.

Shaffer R et al.

Biochemistry, 2019

NEMO Links Nuclear Factor-κB to Human Diseases.

Maubach G et al.

Trends in Molecular Medicine, 2017

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

Miot C et al.

Blood, 2017

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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."