Varaico: Literature-Extracted Genetic Variants

Gene:PTPN22
Variant:p.R263Q
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PTPN22

NM_015967.8:p.R263Q

Associated Papers

Association of PTPN22 single nucleotide polymorphisms (-1123G/C, +788G/A and +1858C/T) with inflammatory bowel disease.

ElMelegy TTH et al.

The Egyptian Journal of Immunology, 2025

Exploring the impact of SNPs rs2476601, rs2488457, and rs33996649 on PTPN22 expression, structure, and anti-CCP level in rheumatoid arthritis of the Indian population: a case-control and computational study.

Aswini S et al.

Frontiers in Medicine, 2025

Sjogren's syndrome: Everything you always wanted to know about genetic and epigenetic factors.

Perricone C et al.

Autoimmunity Reviews, 2024

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Interactions between TNFAIP3, PTPN22, and TRAF1-C5 gene polymorphisms in patients with primary Sjögren's syndrome.

Cadena-Sandoval D et al.

Archives of Rheumatology, 2024

Regulation of T Cell Signaling and Immune Responses by PTPN22.

Brownlie RJ et al.

Molecular and Cellular Biology, 2024

Analysis of IL-1β, TGF-β, IL-5, ACE, PTPN22 gene polymorphisms, and gene expression levels in Turkish children with IgA vasculitis.

Taşkın RB et al.

Molecular Biology Reports, 2023

Analysis of PTPN22 -1123 G>C, +788 G>A and +1858 C>T Polymorphisms in Patients with Primary Sjögren's Syndrome.

Menchaca-Tapia PA et al.

Diagnostics (basel, Switzerland), 2023

Genetic Polymorphism of PTPN22 in Autoimmune Diseases: A Comprehensive Review.

Tizaoui K et al.

Medicina (kaunas, Lithuania), 2022

Immunogenetics of Lupus Erythematosus.

Ünlü B et al.

Advances in Experimental Medicine and Biology, 2022

Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?

Hendriks WJAJ et al.

Frontiers in Cell and Developmental Biology, 2022

36755664 (PubMed )
Supplement: Table1.XLSX › Suppl_Table_1

Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach.

Akhtar M et al.

Biology, 2021

PTPN22 gene functional polymorphism (rs2476601) in older adults with frailty syndrome.

Rabaneda-Bueno R et al.

Molecular Biology Reports, 2021

Association of PTPN22-C1858T Polymorphism With Susceptibility to Mycobacterium tuberculosis and Mycobacterium leprae Infection: A Meta-Analysis.

Li S et al.

Frontiers in Immunology, 2021

Influence of PTPN22 Allotypes on Innate and Adaptive Immune Function in Health and Disease.

Armitage LH et al.

Frontiers in Immunology, 2021

PTPN22 Gene Polymorphisms in Pediatric Systemic Lupus Erythematosus.

Bahrami T et al.

Fetal and Pediatric Pathology, 2020

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Vidmar L et al.

Scientific Reports, 2019

31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1

PTPN22 +788 G>A (R263Q) Polymorphism is Associated with mRNA Expression but it is not a Susceptibility Marker for Rheumatoid Arthritis Patients from Western Mexico.

Ramírez-Pérez S et al.

Biochemical Genetics, 2019

Region 1p13.2 including the RSBN1, PTPN22, AP4B1 and long non-coding RNA genes does not bear risk factors for endemic pemphigus foliaceus (fogo selvagem).

Lobo-Alves SC et al.

International Journal of Immunogenetics, 2019

An association study in PTPN22 suggests that is a risk factor to Takayasu's arteritis.

Soto ME et al.

Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.], 2019

Role of genetic variability in Mendelian and multifactorial diseases.

Ramírez-Bello J

Gaceta Medica De Mexico, 2019

Evolutionarily Conserved Allosteric Communication in Protein Tyrosine Phosphatases.

Hjortness MK et al.

Biochemistry, 2018

30289703 (PubMed )
Supplement: bi8b00656_si_003.xlsx › Table_S5A

The potential of PTPN22 as a therapeutic target for rheumatoid arthritis.

Carmona FD et al.

Expert Opinion on Therapeutic Targets, 2018

Tumor necrosis factor (TNF) and TNFR1 polymorphisms are not risk factors for rheumatoid arthritis in a Mexican population.

Cadena-Sandoval D et al.

Molecular Biology Reports, 2018

The VEGFA -1154G/A polymorphism is associated with reduced risk of rheumatoid arthritis but not with systemic lupus erythematosus in Mexican women.

Ramírez-Bello J et al.

The Journal of Gene Medicine, 2018

Association of PTPN22 gene polymorphism with non-segmental vitiligo in South Indian Tamils.

Rajendiran KS et al.

Postepy Dermatologii I Alergologii, 2018

Association between the functional PTPN22 G788A (R263Q) polymorphism and susceptibility to autoimmune diseases: A meta-analysis.

Bae SC et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2018

The KCNQ1 gene polymorphism as a shared genetic risk for rheumatoid arthritis and chronic periodontitis in Japanese adults: A pilot case-control study.

Kobayashi T et al.

Journal of Periodontology, 2018

High prevalence of protein tyrosine phosphatase non-receptor N22 gene functional variant R620W in systemic lupus erythematosus patients from Kuwait: implications for disease susceptibility.

Al-Awadhi AM et al.

Bmc Rheumatology, 2018

Protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene single nucleotide polymorphisms and its interaction with T2DM on pulmonary tuberculosis in Chinese Uygur population.

Wang XH et al.

Oncotarget, 2017

The PTPN22 R263Q polymorphism confers protection against systemic lupus erythematosus and rheumatoid arthritis, while PTPN22 R620W confers susceptibility to Graves' disease in a Mexican population.

López-Cano DJ et al.

Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.], 2017

Association of PTPN22 Single Nucleotide Polymorphisms with Celiac Disease.

Aflatounian M et al.

Fetal and Pediatric Pathology, 2017

PTPN22 Single-Nucleotide Polymorphisms in Iranian Patients with Type 1 Diabetes Mellitus.

Abbasi F et al.

Immunological Investigations, 2017

rs2476601 polymorphism in PTPN22 is associated with Crohn's disease but not with ulcerative colitis: a meta-analysis of 16,838 cases and 13,356 controls.

Hedjoudje A et al.

Annals of Gastroenterology, 2017

PTPN22 inhibition resets defective human central B cell tolerance.

Schickel JN et al.

Science Immunology, 2016

Association between a Functional HLA-G 14-bp Insertion/deletion Polymorphism and Susceptibility to Autoimmune Diseases: A Meta-analysis.

Lee YH et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2015

Immunogenetics of systemic lupus erythematosus: A comprehensive review.

Ghodke-Puranik Y et al.

Journal of Autoimmunity, 2015

Role of PTPN22 and CSK gene polymorphisms as predictors of susceptibility and clinical heterogeneity in patients with Henoch-Schönlein purpura (IgA vasculitis).

López-Mejías R et al.

Arthritis Research & Therapy, 2015

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S9

Genetic variants within the TNFRSF1B gene and susceptibility to rheumatoid arthritis and response to anti-TNF drugs: a multicenter study.

Canet LM et al.

Pharmacogenetics and Genomics, 2015

Association between a gain-of-function variant of PTPN22 and rejection in liver transplantation.

Dullin R et al.

Transplantation, 2015

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

Low Frequencies of Autoimmunity-Associated PTPN22 Polymorphisms in MODY Patients, Including Those Transiently Expressing Islet Cell Autoantibodies.

Heneberg P et al.

International Archives of Allergy and Immunology, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06P-01A.domain

PTPN22: the archetypal non-HLA autoimmunity gene.

Stanford SM et al.

Nature Reviews. Rheumatology, 2014

Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations.

J de AS et al.

Current Genomics, 2014

Tyrosine phosphatase PTPN22: multifunctional regulator of immune signaling, development, and disease.

Bottini N et al.

Annual Review of Immunology, 2014

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