Varaico: Literature-Extracted Genetic Variants

Gene:IL10RA
Variant:p.W69R
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IL10RA

NM_001558.4:p.W69R

Associated Papers

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

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

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

Aschenbrenner D et al.

Journal of Clinical Immunology, 2023

Screening for primary immunodeficiency diseases by next-generation sequencing in early life.

Sun J et al.

Clinical & Translational Immunology, 2020

32431812 (PubMed )
Supplement: CTI2-9-e1138-s001.xlsx › Sheet1

Phenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study.

Zheng C et al.

Inflammatory Bowel Diseases, 2019

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

Oh SH et al.

Inflammatory Bowel Diseases, 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

Phenotype and Management of Infantile-onset Inflammatory Bowel Disease: Experience from a Tertiary Care Center in China.

Ye Z et al.

Inflammatory Bowel Diseases, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

[Interleukin-10 receptor mutations in children with neonatal onset inflammatory bowel disease: genetic diagnosis and pathogenesis].

Lu D et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

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

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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."