Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.R12C
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IRAK4

NM_016123.4:p.R12C

Associated Papers

Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.

Arun AS et al.

The Pharmacogenomics Journal, 2025

40044654 (PubMed )
Supplement: 41397_2025_364_MOESM3_ESM.xlsx › Sheet1

Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis.

Tepe ZG et al.

Journal of Clinical Immunology, 2023

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.

Nishimura S et al.

Journal of Clinical Immunology, 2021

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

Dimethyl Fumarate Disrupts Human Innate Immune Signaling by Targeting the IRAK4-MyD88 Complex.

Zaro BW et al.

Journal of Immunology (baltimore, Md. : 1950), 2019

Mechanism of dysfunction of human variants of the IRAK4 kinase and a role for its kinase activity in interleukin-1 receptor signaling.

De S et al.

The Journal of Biological Chemistry, 2018

The N-terminal loop of IRAK-4 death domain regulates ordered assembly of the Myddosome signalling scaffold.

Dossang AC et al.

Scientific Reports, 2016

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

Paciolla M et al.

Genes and Immunity, 2015

Functional assessment of the mutational effects of human IRAK4 and MyD88 genes.

Yamamoto T et al.

Molecular Immunology, 2014

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

Picard C et al.

Medicine, 2010

Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency.

Krause JC et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2009

TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway.

Hoarau C et al.

Journal of Immunology (baltimore, Md. : 1950), 2007

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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."