Varaico: Literature-Extracted Genetic Variants

Gene:IL23R
Variant:p.R86Q
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IL23R

NM_144701.3:p.R86Q

Associated Papers

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.

Varzari A et al.

Frontiers in Genetics, 2022

Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.

Shrestha R et al.

Cancer Research, 2021

33441310 (PubMed )
Supplement: can-20-2222_supplemental_st1-st14_suppst1-st14.xlsx › S3

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Xie S et al.

Cell Reports, 2020

32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT224_Mutations

IL-12 and IL-23-Close Relatives with Structural Homologies but Distinct Immunological Functions.

Floss DM et al.

Cells, 2020

Genetic Analysis of Ulcerative Colitis in Japanese Individuals Using Population-specific SNP Array.

Okamoto D et al.

Inflammatory Bowel Diseases, 2020

Genetic profile of patients with early onset inflammatory bowel disease.

Girardelli M et al.

Gene, 2018

Structural Activation of Pro-inflammatory Human Cytokine IL-23 by Cognate IL-23 Receptor Enables Recruitment of the Shared Receptor IL-12Rβ1.

Bloch Y et al.

Immunity, 2018

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Dand N et al.

Human Molecular Genetics, 2017

28973304 (PubMed )
Supplement: dand_exomewideassociationstudy_hmg_2017_supplementaryexcel_ddx328.xlsx › Supp_Table_10

Low-Frequency IL23R Coding Variant Associated with Crohn's Disease Susceptibility in Japanese Subjects Identified by Personal Genomics Analysis.

Onodera K et al.

Plos One, 2015

[Fine mapping of complex disease susceptibility loci].

Song Q et al.

Yi Chuan = Hereditas, 2014

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.

Beaudoin M et al.

Plos Genetics, 2013

24068945 (PubMed )
Supplement: pgen.1003723.s018.xlsx › Supporting_Table_4

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Rivas MA et al.

Nature Genetics, 2011

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.

Momozawa Y et al.

Nature Genetics, 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."