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

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."