Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.G378R
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IL12RB1

NM_005535.3:p.G378R

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.

Vall-Palomar M et al.

Plos Genetics, 2025

40173198 (PubMed )
Supplement: pgen.1011568.s004.xlsx › Table_2

rs401502 and rs11575934 Polymorphisms of the IL-12 Receptor Beta 1 Gene are Protective Against Colorectal Carcinogenesis.

Jelassi R et al.

Frontiers in Genetics, 2022

Mannose-binding lectin 2 gene polymorphisms and their association with tuberculosis in a Chinese population.

Zhang JX et al.

Infectious Diseases of Poverty, 2020

Novel mutations in the exon 5, intron 2 and 3' UTR regions of IL-12B gene were observed in clinically proven tuberculosis patients of south India.

Babu PP et al.

Cytokine, 2017

Polymorphisms on IFNG, IL12B and IL12RB1 genes and paracoccidioidomycosis in the Brazilian population.

Carvalho FM et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2016

Association with Genetic Variants in the IL-23 and NF-κB Pathways Discriminates between Mild and Severe Psoriasis Skin Disease.

Nikamo P et al.

The Journal of Investigative Dermatology, 2015

Complement Regulates Nutrient Influx and Metabolic Reprogramming during Th1 Cell Responses.

Kolev M et al.

Immunity, 2015

26084023 (PubMed )
Supplement: mmc2.xlsx › 141119_pid_genes_6069_nonsyn_or

Mutations in genes underlying atypical familial mycobacteriosis are not found in tuberculosis patients from Siberian populations.

Rudko AA et al.

Tuberculosis (edinburgh, Scotland), 2015

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.

van de Vosse E et al.

Human Mutation, 2013

Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency.

Potjewijd J et al.

Clinical Immunology (orlando, Fla.), 2012

DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.

Qidwai T et al.

Scandinavian Journal of Immunology, 2012

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

de Beaucoudrey L et al.

Medicine, 2010

IL-12 RB1 genetic variants contribute to human susceptibility to severe acute respiratory syndrome infection among Chinese.

Tang F et al.

Plos One, 2008

Association of polymorphisms in IL-12/IFN-gamma pathway genes with susceptibility to pulmonary tuberculosis in Indonesia.

Sahiratmadja E et al.

Tuberculosis (edinburgh, Scotland), 2007

Association of IL12RB1 polymorphisms with susceptibility to and severity of tuberculosis in Japanese: a gene-based association analysis of 21 candidate genes.

Kusuhara K et al.

International Journal of Immunogenetics, 2007

Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency.

van de Vosse E et al.

Human Molecular Genetics, 2005

Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis and other allergic phenotypes.

Takahashi N et al.

Human Molecular Genetics, 2005

Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and interleukin 23 (IL23A) gene polymorphism in systemic lupus erythematosus.

Sánchez E et al.

Rheumatology (oxford, England), 2005

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.

Remus N et al.

The Journal of Infectious Diseases, 2004

Association study between interleukin-12 receptor beta1/beta2 genes and type 1 diabetes or asthma in the Japanese population.

Bassuny WM et al.

Immunogenetics, 2003

Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea.

Lee SB et al.

Immunogenetics, 2003

Influence of interleukin-12 receptor beta1 polymorphisms on tuberculosis.

Akahoshi M et al.

Human Genetics, 2003

Genetic variations in the interleukin-12/interleukin-23 receptor (beta1) chain, and implications for IL-12 and IL-23 receptor structure and function.

van de Vosse E et al.

Immunogenetics, 2003

Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection.

Elloumi-Zghal H et al.

The Journal of Infectious Diseases, 2002

Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection.

Sakai T et al.

Blood, 2001

[Sodium deficiency caused by Seltin and drugs].

Levin IL

Lakartidningen, 0

Interleukin-12 receptor beta1 polymorphisms and nontuberculous mycobacterial lung diseases.

Park HY et al.

Lung, 0

Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

Tempfer CB et al.

Human Reproduction Update, 0

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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."