Varaico: Literature-Extracted Genetic Variants

Gene:NFKBIA
Variant:p.S36A
Back to variants list

NFKBIA

NM_020529.3:p.S36A

Associated Papers

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).

Rivera-Munoz EA et al.

European Journal of Human Genetics : Ejhg, 2025

40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1

A germline IκBα mutation outside the signal reception domain blocks nuclear translocation of NFκB1 and associates with autoinflammation-like features.

Elsayed A et al.

Annals of the Rheumatic Diseases, 2025

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

Borar P et al.

Elife, 2025

A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia.

Sogkas G et al.

Clinical Immunology (orlando, Fla.), 2020

The combination of TPL2 knockdown and TNFα causes synthetic lethality via caspase-8 activation in human carcinoma cell lines.

Serebrennikova OB et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.

Schimke LF et al.

Journal of Clinical Immunology, 2013

The human NADPH oxidase: primary and secondary defects impairing the respiratory burst function and the microbicidal ability of phagocytes.

de Oliveira-Junior EB et al.

Scandinavian Journal of Immunology, 2011

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.

Courtois G et al.

The Journal of Clinical Investigation, 2003

NF-kappaB activation by camptothecin. A linkage between nuclear DNA damage and cytoplasmic signaling events.

Huang TT et al.

The Journal of Biological Chemistry, 2000

The PEST domain of IkappaBalpha is necessary and sufficient for in vitro degradation by mu-calpain.

Shumway SD et al.

The Journal of Biological Chemistry, 1999

Molecular dissection of the interactions among IkappaBalpha, FWD1, and Skp1 required for ubiquitin-mediated proteolysis of IkappaBalpha.

Hattori K et al.

The Journal of Biological Chemistry, 1999

Linkage of the BH4 domain of Bcl-2 and the nuclear factor kappaB signaling pathway for suppression of apoptosis.

de Moissac D et al.

The Journal of Biological Chemistry, 1999

The carboxy-terminus of I kappaB alpha determines susceptibility to degradation by the catalytic core of the proteasome.

Kroll M et al.

Oncogene, 1997

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."