Varaico: Literature-Extracted Genetic Variants

Gene:IL23R
Variant:p.Q3H
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IL23R

NM_144701.3:p.Q3H

Associated Papers

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Determination of IL-23 receptor expression and gene polymorphism (rs1884444) in Iranian patients with ankylosing spondylitis.

Mellati A et al.

Bmc Rheumatology, 2024

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Whole Exome Sequence Analysis for Inborn Errors of IL-12/IFN-γ Axis in Patient with Recurrent Typhoid Fever.

Hassan FU et al.

Biomed Research International, 2023

Targeted Sequencing of Cytokine-Induced PI3K-Related Genes in Ulcerative Colitis, Colorectal Cancer and Colitis-Associated Cancer.

Razali NN et al.

International Journal of Molecular Sciences, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Fava VM et al.

Plos Neglected Tropical Diseases, 2021

34879060 (PubMed )
Supplement: pntd.0010029.s004.xlsx › S2_Table

Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

Khan S et al.

Bmc Research Notes, 2021

33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_

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

Floss DM et al.

Cells, 2020

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.

Martínez-Barricarte R et al.

Science Immunology, 2018

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.

Moon CM et al.

Inflammatory Bowel Diseases, 2018

29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf

Genetic profile of patients with early onset inflammatory bowel disease.

Girardelli M et al.

Gene, 2018

Association of IL23R polymorphism (rs7530511) with intracerebral hemorrhage in Korean population.

Park HJ et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016

Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.

Visschedijk MC et al.

Plos One, 2016

27490946 (PubMed )
Supplement: pone.0159609.s002.xlsx › Results_Discovery_phase_I

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyB

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

Prescott NJ et al.

Plos Genetics, 2015

25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs

Clinical and genetic factors predicting response to therapy in patients with Crohn's disease.

Cravo M et al.

United European Gastroenterology Journal, 2014

IL23R polymorphisms influence phenotype and response to therapy in patients with ulcerative colitis.

Cravo ML et al.

European Journal of Gastroenterology & Hepatology, 2014

Genetic variability in IL23R and risk of colorectal adenoma and colorectal cancer.

Poole EM et al.

Cancer Epidemiology, 2012

Host immune gene polymorphisms were associated with the prognosis of non-small-cell lung cancer in Chinese.

Dai J et al.

International Journal of Cancer, 2012

Genetic polymorphisms of IL-23R and IL-17A and novel insights into their associations with inflammatory bowel disease.

Kim SW et al.

Gut, 2011

Genetic variability in EGFR, Src and HER2 and risk of colorectal adenoma and cancer.

Poole EM et al.

International Journal of Molecular Epidemiology and Genetics, 2011

Genetic association of nonsynonymous variants of the IL23R with familial and sporadic inflammatory bowel disease in women.

Lin Z et al.

Digestive Diseases and Sciences, 2010

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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."