Varaico: Literature-Extracted Genetic Variants

Gene:IKBKB
Variant:p.K44M
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IKBKB

NM_001556.3:p.K44M

Associated Papers

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

Dual-specific autophosphorylation of kinase IKK2 enables phosphorylation of substrate IκBα through a phosphoenzyme intermediate.

Borar P et al.

Elife, 2025

Dual-specific autophosphorylation of kinase IKK2 enables phosphorylation of substrate IκBα through a phosphoenzyme intermediate.

Prateeka B et al.

Biorxiv : the Preprint Server for Biology, 2025

IKBKB reduces huntingtin aggregation by phosphorylating serine 13 via a non-canonical IKK pathway.

Cariulo C et al.

Life Science Alliance, 2023

Regulatory subunit NEMO promotes polyubiquitin-dependent induction of NF-κB through a targetable second interaction with upstream activator IKK2.

Ko MS et al.

The Journal of Biological Chemistry, 2022

The Atypical Kinase RIOK1 Promotes Tumor Growth and Invasive Behavior.

Weinberg F et al.

Ebiomedicine, 2017

IκB kinase β (IKBKB) mutations in lymphomas that constitutively activate canonical nuclear factor κB (NFκB) signaling.

Kai X et al.

The Journal of Biological Chemistry, 2014

A novel ubiquitin-like domain in IkappaB kinase beta is required for functional activity of the kinase.

May MJ et al.

The Journal of Biological Chemistry, 2004

Roles for homotypic interactions and transautophosphorylation in IkappaB kinase beta IKKbeta) activation [corrected].

Tang ED et al.

The Journal of Biological Chemistry, 2003

The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A.

Kumar A et al.

The Journal of Biological Chemistry, 2001

Common pathway for the ubiquitination of IkappaBalpha, IkappaBbeta, and IkappaBepsilon mediated by the F-box protein FWD1.

Shirane M et al.

The Journal of Biological Chemistry, 1999

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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."