Varaico: Literature-Extracted Genetic Variants

Gene:IL4R
Variant:p.I75V
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IL4R

NM_000418.4:p.I75V

Associated Papers

Nonsteroidal anti-inflammatory drug-induced acute urticaria/angioedema associated with atopy-related genes' genetic variants.

Jiménez-Sánchez IM et al.

The Journal of Allergy and Clinical Immunology, 2026

Study the role of interleukin-4 and interferon- in patients with penicillin allergy.

Al-Omari RSM et al.

The Egyptian Journal of Immunology, 2026

Late-Onset Bilateral Malignant Ciliary Body Medulloepithelioma in an Adult.

Kaimi Y et al.

Pathology International, 2026

Next-Generation Sequencing Identifies Novel Germline Mutations in Patients with Budd-Chiari Syndrome-Associated Hepatocellular Carcinoma.

Kumar S et al.

Digestive Diseases and Sciences, 2025

Genomic alterations in normal breast tissues preceding breast cancer diagnosis.

Dai J et al.

Breast Cancer Research : Bcr, 2025

40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S1

Genetic Variant rs1801275 in Atopic Dermatitis: Prevalence and Clinical Implications in Vietnamese Population.

Nguyen THN et al.

Journal of Asthma and Allergy, 2025

Genetic and serum biomarkers of NSAID hypersensitivity reactions.

Amo G et al.

Frontiers in Pharmacology, 2025

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

Buianova A et al.

Plos One, 2024

39423205 (PubMed )
Supplement: pone.0312335.s008.xlsx › Pathogenic_Fam_B__references_

Genetic association of beta-lactams-induced hypersensitivity reactions: A systematic review of genome-wide evidence and meta-analysis of candidate genes.

Lumkul L et al.

The World Allergy Organization Journal, 2023

37780578 (PubMed )
Supplement: mmc1.doc

The Potential Usefulness of the Expanded Carrier Screening to Identify Hereditary Genetic Diseases: A Case Report from Real-World Data.

Veneruso I et al.

Genes, 2023

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis.

Perälä M et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2023

37533579 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S1

FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.

Mortensen Ó et al.

European Journal of Human Genetics : Ejhg, 2023

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t

Genetic Factors in Familial Manifestation of Primary Mediastinal Large B-Cell Lymphoma over Two Generations.

Juskevicius D et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

Whole-exome sequencing of calcitonin-producing pancreatic neuroendocrine neoplasms indicates a unique molecular signature.

Döring C et al.

Frontiers in Oncology, 2023

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

Association of the IL-4R Q576R Polymorphism with Pediatric Asthma: a meta-analysis.

Chen X et al.

African Health Sciences, 2022

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

Complete genome sequence and bioinformatics analysis of nine Egyptian females with clinical information from different geographic regions in Egypt.

ElHefnawi M et al.

Gene, 2021

Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.

Noel DD et al.

Bioinformatics and Biology Insights, 2021

A Novel Mutation in the IL6R Gene Identified in a Family with Asthma Patients.

Trueb B et al.

Genetic Testing and Molecular Biomarkers, 2020

High-depth African genomes inform human migration and health.

Choudhury A et al.

Nature, 2020

33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19

Association analysis of non-synonymous polymorphisms of interleukin-4 receptor-α and interleukin-13 genes in canine atopic dermatitis.

Tanaka K et al.

The Journal of Veterinary Medical Science, 2020

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry.

Minarik L et al.

Folia Biologica, 2020

Polymorphisms in the interleukin 4 receptor and interleukin 13 genes in immediate allergic reactions to beta-lactam antibiotics: A case-control study.

Ksouri L et al.

Asian Pacific Journal of Allergy and Immunology, 2019

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Zhang C et al.

Genome Biology, 2019

31640808 (PubMed )
Supplement: 13059_2019_1838_MOESM4_ESM.xlsx › Sheet1

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001

Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Tang D et al.

Scientific Reports, 2018

30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf

The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.

Diplas BH et al.

Nature Communications, 2018

29802247 (PubMed )
Supplement: 41467_2018_4448_MOESM11_ESM.xlsx › 8_SNV_WGS

Donor Polymorphisms in Genes Related to B-Cell Biology Associated With Antibody-Mediated Rejection After Heart Transplantation.

Marrón-Liñares GM et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2018

Association of IL4, IL13, and IL4R polymorphisms with gastrointestinal cancer risk: A meta-analysis.

Cho YA et al.

Journal of Epidemiology, 2017

Genetic variants associated with drugs-induced immediate hypersensitivity reactions: a PRISMA-compliant systematic review.

Oussalah A et al.

Allergy, 2016

Identification of IL13 C1923T as a Single Nucleotide Polymorphism for Asthma in Children from Mauritius.

Ramphul K et al.

Pediatric Allergy, Immunology, and Pulmonology, 2015

Lessons and implications from association studies and post-GWAS analyses of cervical cancer.

Chen D et al.

Trends in Genetics : Tig, 2015

Inherited variation in immune response genes in follicular lymphoma and diffuse large B-cell lymphoma.

Nielsen KR et al.

Leukemia & Lymphoma, 2015

[Correlation of gene polymorphism of interleukin 4 receptor alpha peptide chain and total serum IgE levels in asthmatic children in Guiyang area].

Zheng S et al.

Zhonghua Yi Xue Za Zhi, 2014

Genetic basis of myasthenia gravis - a comprehensive review.

Avidan N et al.

Journal of Autoimmunity, 2014

IL-4 receptor alpha single-nucleotide polymorphisms rs1805010 and rs1801275 are associated with increased risk of asthma in a Saudi Arabian population.

Al-Muhsen S et al.

Annals of Thoracic Medicine, 2014

Symptom clusters of pain, depressed mood, and fatigue in lung cancer: assessing the role of cytokine genes.

Reyes-Gibby CC et al.

Supportive Care in Cancer : Official Journal of the Multinational Association of Supportive Care in Cancer, 2013

Reduced type II interleukin-4 receptor signalling drives initiation, but not progression, of colorectal carcinogenesis: evidence from transgenic mouse models and human case-control epidemiological observations.

Ingram N et al.

Carcinogenesis, 2013

Genetic analysis of asthma exacerbations.

Anderson WH et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2013

Case-control study of eczema in relation to IL4Rα genetic polymorphisms in Japanese women: The Kyushu Okinawa Maternal and Child Health Study.

Miyake Y et al.

Scandinavian Journal of Immunology, 2013

Can certain genotypes predispose to poor asthma control in children? A pharmacogenetic study of 9 candidate genes in children with difficult asthma.

Almomani B et al.

Plos One, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

Interleukin-4 receptor alpha polymorphisms in autoimmune myasthenia gravis in a Caucasian population.

Pál Z et al.

Human Immunology, 2012

Associations between three polymorphisms in the interleukin-4 receptor gene and risk of cancer: a meta-analysis.

Wang JY et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2012

Allergic bronchopulmonary aspergillosis in asthma and cystic fibrosis.

Knutsen AP et al.

Clinical & Developmental Immunology, 2011

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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."