Varaico: Literature-Extracted Genetic Variants

Gene:IL10RA
Variant:p.R262C
Back to variants list

IL10RA

NM_001558.4:p.R262C

Associated Papers

Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications.

Aschenbrenner D et al.

Journal of Clinical Immunology, 2023

36370291 (PubMed )
Supplement: 10875_2022_1366_MOESM10_ESM.xlsx › Sheet1

Novel Compound Heterozygote Mutation in IL10RA in a Patient With Very Early-Onset Inflammatory Bowel Disease.

Oh SH et al.

Inflammatory Bowel Diseases, 2019

Neonatal Crohn's disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report.

Lv H et al.

Hereditas, 2019

Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD).

Al-Abbasi FA et al.

Frontiers in Genetics, 2018

Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations.

Shim JO et al.

Journal of Human Genetics, 2014

Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans.

Shouval DS et al.

Advances in Immunology, 2014

IL-10 in humans: lessons from the gut, IL-10/IL-10 receptor deficiencies, and IL-10 polymorphisms.

Engelhardt KR et al.

Current Topics in Microbiology and Immunology, 2014

Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group.

Pigneur B et al.

Inflammatory Bowel Diseases, 2013

Interleukin-10 receptor mutations in children with neonatal-onset Crohn's disease and intractable ulcerating enterocolitis.

Shim JO et al.

European Journal of Gastroenterology & Hepatology, 2013

Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.

Engelhardt KR et al.

The Journal of Allergy and Clinical Immunology, 2013

Interleukin-10 and interleukin-10-receptor defects in inflammatory bowel disease.

Shah N et al.

Current Allergy and Asthma Reports, 2012

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease.

Mao H et al.

Genes and Immunity, 2012

IL-10 and IL-10 receptor defects in humans.

Glocker EO et al.

Annals of the New York Academy of Sciences, 2011

Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.

Begue B et al.

The American Journal of Gastroenterology, 2011

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.

Dinwiddie DL et al.

Genomics, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."