Varaico: Literature-Extracted Genetic Variants

Gene:IRAK2
Variant:p.L392V
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IRAK2

NM_001570.4:p.L392V

Associated Papers

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

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

Fallerini C et al.

Human Genetics, 2022

Multi-locus SNP analyses of interleukin 1 receptor associated kinases 2 gene polymorphisms with the susceptibility to rheumatoid arthritis.

Ghouri M et al.

Plos One, 2022

Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Block T et al.

Frontiers in Oncology, 2022

36582804 (PubMed )
Supplement: Table_2.xlsx › Sheet1

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s007.xlsx › Sheet1

IRAK2 is associated with systemic lupus erythematosus risk.

Boumiza A et al.

Clinical Rheumatology, 2020

IRAK2 is associated with susceptibility to rheumatoid arthritis.

Hassine HB et al.

Clinical Rheumatology, 2018

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

Functional Polymorphisms in IRAKs Are Related to Hepatocellular Carcinoma Risk in Chinese Population.

Wang H et al.

Biomed Research International, 2018

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

A frequent hypofunctional IRAK2 variant is associated with reduced spontaneous hepatitis C virus clearance.

Wang H et al.

Hepatology (baltimore, Md.), 2015

Hepatitis: A variant resulting in hypofunctional IRAK2 hampers spontaneous clearance of HCV.

Patman G

Nature Reviews. Gastroenterology & Hepatology, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

A coding IRAK2 protein variant compromises Toll-like receptor (TLR) signaling and is associated with colorectal cancer survival.

Wang H et al.

The Journal of Biological Chemistry, 2014

Innate immunity and non-Hodgkin's lymphoma (NHL) related genes in a nested case-control study for gastric cancer risk.

Park SK et al.

Plos One, 2012

23028900 (PubMed )
Supplement: pone.0045274.s001.xlsx › Innate
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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."