Varaico: Literature-Extracted Genetic Variants

Gene:ATIC
Variant:p.T116S
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ATIC

NM_004044.7:p.T116S

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Gene polymorphisms associated with immunosuppressant adverse effects in systemic lupus erythematosus: a narrative review.

Hamdani S et al.

Frontiers in Genetics, 2025

Pharmacogenomics and genetic ancestry in Colombia: a study on all variant drug annotations of PharmGKB.

Acosta-Monterrosa AA et al.

Frontiers in Pharmacology, 2025

40949159 (PubMed )
Supplement: Table1.xlsx › Studies

Pharmacogenetics of therapies in rheumatoid arthritis: An update.

Babiker-Mohamed MH et al.

Best Practice & Research. Clinical Rheumatology, 2024

Genetic biomarkers of methotrexate response and safety in Crohn's disease: Data from the Spanish ENEIDA registry.

Salazar J et al.

British Journal of Clinical Pharmacology, 2024

The impact of folate pathway variants on the outcome of methotrexate therapy in rheumatoid arthritis patients.

Nomair AM et al.

Clinical Rheumatology, 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

A meta-analysis of the association between the ATIC 347 C/G polymorphism and methotrexate responsiveness and toxicity in rheumatoid arthritis.

Lee YH et al.

Seminars in Arthritis and Rheumatism, 2024

Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.

Aguayo-Gómez A et al.

Plos One, 2024

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

5-Amino-4-Imidazolecarboxamide Ribonucleotide Transformylase/IMP Cyclohydrolase Polymorphisms Affect the Susceptibility to Multiple Myeloma.

Wang Y et al.

Laboratory Medicine, 2022

Genetic variations in methotrexate metabolic pathway genes influence methotrexate responses in rheumatoid arthritis patients in Malaysia.

Sha HX et al.

Scientific Reports, 2022

Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.

Cereja Pantoja KBC et al.

Genes, 2022

Is Pharmacogenetic Panel Testing Applicable to Low-Dose Methotrexate in Rheumatoid Arthritis? - A Case Report.

Jeiziner C et al.

Pharmacogenomics and Personalized Medicine, 2022

Association between high-dose methotrexate-induced toxicity and polymorphisms within methotrexate pathway genes in acute lymphoblastic leukemia.

Xu M et al.

Frontiers in Pharmacology, 2022

Association of MTHFR and ABCB1 polymorphisms with MTX-induced mucositis in Chinese paediatric patients with acute lymphoblastic leukaemia, lymphoma or osteosarcoma-A retrospective cohort study.

Gong Y et al.

Journal of Clinical Pharmacy and Therapeutics, 2021

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Systematic Review of Pharmacogenetic Factors That Influence High-Dose Methotrexate Pharmacokinetics in Pediatric Malignancies.

Taylor ZL et al.

Cancers, 2021

Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients.

Singh A et al.

International Journal of Rheumatic Diseases, 2021

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

The Role of Genetic Polymorphisms in High-Dose Methotrexate Toxicity and Response in Hematological Malignancies: A Systematic Review and Meta-Analysis.

Song Z et al.

Frontiers in Pharmacology, 2021

AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.

Ramond F et al.

Journal of Inherited Metabolic Disease, 2020

The impact of single nucleotide polymorphisms in ADORA2A and ADORA3 genes on the early response to methotrexate and presence of therapy side effects in children with juvenile idiopathic arthritis: Results of a preliminary study.

Roszkiewicz J et al.

International Journal of Rheumatic Diseases, 2020

Pharmacogenetic aspects of methotrexate in a cohort of Colombian patients with rheumatoid arthritis.

Londono J et al.

Biomedical Reports, 2020

Association between the TPMT*3C (rs1142345) Polymorphism and the Risk of Death in the Treatment of Acute Lymphoblastic Leukemia in Children from the Brazilian Amazon Region.

Cardoso de Carvalho D et al.

Genes, 2020

Using pharmacogenetics to predict methotrexate response in rheumatoid arthritis patients.

Szostak B et al.

Expert Opinion on Drug Metabolism & Toxicology, 2020

From astrocytoma to glioblastoma: a clonal evolution study.

Yang F et al.

Febs Open Bio, 2020

Association of genes ARID5B, CEBPE and folate pathway with acute lymphoblastic leukemia in a population from the Brazilian Amazon region.

Carvalho DC et al.

Leukemia Research Reports, 2020

Are gene polymorphisms related to adverse events of methotrexate in patients with rheumatoid arthritis? A retrospective cohort study based on an updated meta-analysis.

Huang J et al.

Therapeutic Advances in Chronic Disease, 2020

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ040

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s005.xlsx › Table_S2

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

Genetic markers in methotrexate treatments.

Giletti A et al.

The Pharmacogenomics Journal, 2018

Risk factors for abnormal hepatic enzyme elevation by methotrexate treatment in patients with rheumatoid arthritis: A hospital based-cohort study.

Hakamata J et al.

Modern Rheumatology, 2018

Identification of ATIC as a Novel Target for Chemoradiosensitization.

Liu X et al.

International Journal of Radiation Oncology, Biology, Physics, 2018

Clinical Pharmacogenetic Models of Treatment Response to Methotrexate Monotherapy in Slovenian and Serbian Rheumatoid Arthritis Patients: Differences in Patient's Management May Preclude Generalization of the Models.

Jenko B et al.

Frontiers in Pharmacology, 2018

Factors Predicting the Therapeutic Response to Methotrexate in Japanese Patients with Rheumatoid Arthritis: A Hospital-Based Cohort Study.

Hakamata J et al.

Biological & Pharmaceutical Bulletin, 2018

Genetic Polymorphisms of TYMS, MTHFR, ATIC, MTR, and MTRR Are Related to the Outcome of Methotrexate Therapy for Rheumatoid Arthritis in a Chinese Population.

Lv S et al.

Frontiers in Pharmacology, 2018

ATIC Gene Polymorphism and Histologic Response to Chemotherapy in Pediatric Osteosarcoma.

Park JA et al.

Journal of Pediatric Hematology/oncology, 2017

Association Between MTHFR C677T Polymorphism and Methotrexate Treatment Outcome in Rheumatoid Arthritis Patients: A Systematic Review and Meta-Analysis.

Shao W et al.

Genetic Testing and Molecular Biomarkers, 2017

Lack of association between MTHFR A1298C polymorphism and outcome of methotrexate treatment in rheumatoid arthritis patients: evidence from a systematic review and meta-analysis.

Fan H et al.

International Journal of Rheumatic Diseases, 2017

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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."