Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.R391H
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IRAK4

NM_016123.4:p.R391H

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4b.xlsx › All_candidate_mutations

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

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

A Bioinformatics Approach to Prioritize Single Nucleotide Polymorphisms in TLRs Signaling Pathway Genes.

Alipoor B et al.

International Journal of Molecular and Cellular Medicine, 2016

Characterization of DNA variants in the human kinome in breast cancer.

Agarwal D et al.

Scientific Reports, 2015

26420498 (PubMed )
Supplement: srep14736-s3.xls › HFI_Unique

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

Paciolla M et al.

Genes and Immunity, 2015

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."