Varaico: Literature-Extracted Genetic Variants

Gene:IRAK1
Variant:p.F196S
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IRAK1

NM_001569.4:p.F196S

Associated Papers

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.

Reeve MP et al.

Nature Genetics, 2026

Xq28 Variants as Novel Male-Specific Susceptibility Factors for Hirschsprung Disease.

Xie X et al.

The Journal of Surgical Research, 2026

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Type I interferon associated epistasis may contribute to early disease-onset and high disease activity in juvenile-onset lupus.

Renaudineau Y et al.

Clinical Immunology (orlando, Fla.), 2024

A Comprehensive Clinicopathologic and Molecular Study of 19 Primary Effusion Lymphomas in HIV-infected Patients.

Calvani J et al.

The American Journal of Surgical Pathology, 2022

Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Panda G et al.

Frontiers in Pharmacology, 2022

35865963 (PubMed )
Supplement: DataSheet1.pdf

Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach.

Akhtar M et al.

Biology, 2021

Multidimensional Mutational Profiling of the Indian HNSCC Sub-Population Provides IRAK1, a Novel Driver Gene and Potential Druggable Target.

Desai SS et al.

Frontiers in Oncology, 2021

Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Lu H et al.

Critical Care (london, England), 2019

30683156 (PubMed )
Supplement: 13054_2019_2313_MOESM3_ESM.docx

Targeting Myddosome Signaling in Waldenström's Macroglobulinemia with the Interleukin-1 Receptor-Associated Kinase 1/4 Inhibitor R191.

Ni H et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Next-Generation Sequencing in the Understanding of Kaposi's Sarcoma-Associated Herpesvirus (KSHV) Biology.

Strahan R et al.

Viruses, 2016

Immunogenetics of rheumatoid arthritis: Understanding functional implications.

Messemaker TC et al.

Journal of Autoimmunity, 2015

Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients.

Saadah OI et al.

Disease Markers, 2015

Interleukin 1 receptor-associated kinase 1 (IRAK1) mutation is a common, essential driver for Kaposi sarcoma herpesvirus lymphoma.

Yang D et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf

New insight on the Xq28 association with systemic sclerosis.

Carmona FD et al.

Annals of the Rheumatic Diseases, 2013

Association of an activity-enhancing variant of IRAK1 and an MECP2-IRAK1 haplotype with increased susceptibility to rheumatoid arthritis.

Han TU et al.

Arthritis and Rheumatism, 2013

Toll-like receptor signaling pathway variants and prostate cancer mortality.

Stark JR et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2009

The association between innate immunity gene (IRAK1) and C-reactive protein in the Diabetes Heart Study.

Lakoski SG et al.

Experimental and Molecular Pathology, 2007

Lack of association between genetic variation in 9 innate immunity genes and baseline CRP levels.

Kozlowski P et al.

Annals of Human Genetics, 2006

Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels.

Kozlowski P et al.

Annals of Human Genetics, 2006

Interactions of sequence variants in interleukin-1 receptor-associated kinase4 and the toll-like receptor 6-1-10 gene cluster increase prostate cancer risk.

Sun J et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006

Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections.

Medvedev AE et al.

The Journal of Experimental Medicine, 2003

Association of a haplotype (196Phe/532Ser) in the interleukin-1-receptor-associated kinase (IRAK1) gene with low radial bone mineral density in two independent populations.

Ishida R et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003

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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."