Varaico: Literature-Extracted Genetic Variants

Gene:IL23R
Variant:p.L310P
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IL23R

NM_144701.3:p.L310P

Associated Papers

IL-23 serum levels and IL23R polymorphisms in psoriasis: a meta-analysis of susceptibility and severity.

Ahmadipanah S et al.

Bmc Immunology, 2026

Paradoxical Psoriasis in Patients Receiving Therapy with Tumor Necrosis Factor Inhibitors: Potential Pathogenic Mechanisms and the Role of Genetic Factors.

Costin D et al.

International Journal of Molecular Sciences, 2024

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

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

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_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.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

Long-term Outcomes and Prognosis in New-Onset Psoriasis.

Svedbom A et al.

Jama Dermatology, 2021

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

Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis.

Meguro A et al.

Communications Biology, 2020

32826979 (PubMed )
Supplement: 42003_2020_1185_MOESM1_ESM.pdf

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

Association of Autophagy Gene ATG16L1 Polymorphism with Human Prostate Cancer and Bladder Cancer in Turkish Population

Budak Diler S et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2018

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

IL12B, IL23A, IL23R and HLA-C*06 genetic variants in psoriasis susceptibility and response to treatment.

Bojko A et al.

Human Immunology, 2018

Genetic profile of patients with early onset inflammatory bowel disease.

Girardelli M et al.

Gene, 2018

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

Maguire SL et al.

The Journal of Pathology, 2016

27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2

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

Association with Genetic Variants in the IL-23 and NF-κB Pathways Discriminates between Mild and Severe Psoriasis Skin Disease.

Nikamo P et al.

The Journal of Investigative Dermatology, 2015

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

IL23R and ATG16L1 variants in Moroccan patients with inflammatory bowel disease.

Serbati N et al.

Bmc Research Notes, 2014

Mevalonate kinase deficiency and IBD: shared genetic background.

Bianco AM et al.

Gut, 2014

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Nasuno T et al.

Cancer Science, 2014

24219164 (PubMed )
Supplement: cas0105-0202-SD2.xlsx › TE1

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Christodoulou K et al.

Gut, 2013

22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf

Associations between interleukin-23R and interleukin-12B polymorphisms and psoriasis susceptibility: a meta-analysis.

Lee YH et al.

Immunological Investigations, 2013

Association of IL23R polymorphisms with psoriasis and psoriatic arthritis: a meta-analysis.

Zhu KJ et al.

Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.], 2012

Maternal imprinting and female predominance in familial Crohn's disease.

Zelinkova Z et al.

Journal of Crohn's & Colitis, 2012

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

Poole EM et al.

Cancer Epidemiology, 2012

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Zhang G et al.

Human Mutation, 2010

21064102 (PubMed )
Supplement: supplement_1.pdf

Where do we stand with the genetics of psoriatic arthritis?

O'Rielly DD et al.

Current Rheumatology Reports, 2010

OCTN1 variant L503F is associated with familial and sporadic inflammatory bowel disease.

Lin Z et al.

Journal of Crohn's & Colitis, 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."