Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB2
Variant:p.Q426H
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IL12RB2

NM_001374259.2:p.Q426H

Associated Papers

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Fava VM et al.

Plos Neglected Tropical Diseases, 2021

34879060 (PubMed )
Supplement: pntd.0010029.s004.xlsx › S2_Table

Very early onset inflammatory bowel disease: Investigation of the IL-10 signaling pathway in Iranian children.

Nemati S et al.

European Journal of Medical Genetics, 2017

Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing.

Shoemaker LD et al.

G3 (bethesda, Md.), 2015

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

Prescott NJ et al.

Plos Genetics, 2015

25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs

Differential expression and function of human IL-12Rβ2 polymorphic variants.

de Paus RA et al.

Molecular Immunology, 2013

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