Varaico: Literature-Extracted Genetic Variants

Gene:UMPS
Variant:p.G213A
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UMPS

NM_000373.4:p.G213A

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

Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis.

Cai J et al.

Signal Transduction and Targeted Therapy, 2024

39307879 (PubMed )
Supplement: 41392_2024_1960_MOESM6_ESM.xlsx › Table_S5

Clinical and genomic features of non-small cell lung cancer occurring in families.

Miyabe S et al.

Thoracic Cancer, 2023

An Example of Personalized Treatment in HR+ HER2+ Long Survivor Breast Cancer Patient (Case Report).

Panebianco M et al.

Current Oncology (toronto, Ont.), 2021

34070464 (PubMed )
Supplement: curroncol-28-00184-s001.zip › curroncol-1167217-SI.pdf

Drug-Drug Interactions and Pharmacogenomic Evaluation in Colorectal Cancer Patients: The New Drug-PIN® System Comprehensive Approach.

Roberto M et al.

Pharmaceuticals (basel, Switzerland), 2021

33467633 (PubMed )
Supplement: pharmaceuticals-14-00067-s001.pdf

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1

The Identification of Admixture Patterns Could Refine Pharmacogenetic Counseling: Analysis of a Population-Based Sample in Mexico.

Martínez-Magaña JJ et al.

Frontiers in Pharmacology, 2020

Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry.

Minarik L et al.

Folia Biologica, 2020

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S002

Comprehensive biomarker analyses identifies HER2, EGFR, MET RNA expression and thymidylate synthase 5'UTR SNP as predictors of benefit from S-1 adjuvant chemotherapy in Japanese patients with stage II/III gastric cancer.

Yoshikawa T et al.

Journal of Cancer, 2019

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

John SE et al.

Scientific Reports, 2018

Host genetic profiling to increase drug safety in colorectal cancer from discovery to implementation.

Cecchin E et al.

Drug Resistance Updates : Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy, 2018

Pharmacogenetic Analysis of the UK MRC (Medical Research Council) MAGIC Trial: Association of Polymorphisms with Toxicity and Survival in Patients Treated with Perioperative Epirubicin, Cisplatin, and 5-fluorouracil (ECF) Chemotherapy.

Smyth E et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

ABCC2-24C > T polymorphism is associated with the response to platinum/5-Fu-based neoadjuvant chemotherapy and better clinical outcomes in advanced gastric cancer patients.

Li Z et al.

Oncotarget, 2016

Pharmacogenomics of fluorouracil -based chemotherapy toxicity.

Matsusaka S et al.

Expert Opinion on Drug Metabolism & Toxicology, 2015

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

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-A2-A0CT-01A.domain

A DPYD variant (Y186C) specific to individuals of African descent in a patient with life-threatening 5-FU toxic effects: potential for an individualized medicine approach.

Saif MW et al.

Mayo Clinic Proceedings, 2014

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

Gene polymorphisms predict toxicity to neoadjuvant therapy in patients with rectal cancer.

Duldulao MP et al.

Cancer, 2013

Evaluating predictive pharmacogenetic signatures of adverse events in colorectal cancer patients treated with fluoropyrimidines.

Jennings BA et al.

Plos One, 2013

Analysis of polymorphisms and haplotype structure of the human thymidylate synthase genetic region: a tool for pharmacogenetic studies.

Ghosh S et al.

Plos One, 2012

Reexamining a proposal: thymidylate synthase 5'-untranslated region as a regulator of translation efficiency.

Ghosh S et al.

Cancer Biology & Therapy, 2011

Frequency of uridine monophosphate synthase Gly(213)Ala polymorphism in Caucasian gastrointestinal cancer patients and healthy subjects, investigated by means of new, rapid genotyping assays.

Gusella M et al.

Genetic Testing and Molecular Biomarkers, 2011

VEGF gene polymorphisms may be associated with an increased risk of fluorouracil-induced diarrhea.

Formica V et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2011

Combinations of polymorphisms in genes involved in the 5-Fluorouracil metabolism pathway are associated with gastrointestinal toxicity in chemotherapy-treated colorectal cancer patients.

Afzal S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011

Associations of various gene polymorphisms with toxicity in colorectal cancer patients receiving oral uracil and tegafur plus leucovorin: a prospective study.

Tsunoda A et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2011

Predictive diagnostics in colorectal cancer: impact of genetic polymorphisms on individual outcomes and treatment with fluoropyrimidine-based chemotherapy.

Schwarzenbach H

The Epma Journal, 2010

Toxicity and efficacy of 5-fluorouracil and capecitabine in a patient with TYMS gene polymorphism: A challenge or a dilemma?

Shahrokni A et al.

Clinical Colorectal Cancer, 2009

Pharmacogenetic analyses of a phase III trial in metastatic gastroesophageal adenocarcinoma with fluorouracil and leucovorin plus either oxaliplatin or cisplatin: a study of the arbeitsgemeinschaft internistische onkologie.

Goekkurt E et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2009

Pharmacogenetics of fluoropyrimidine and cisplatin. A future application to gastric cancer treatment.

Shimoyama S

Journal of Gastroenterology and Hepatology, 2009

Cardiotoxicity of 5-fluorouracil and capecitabine in a pancreatic cancer patient with a novel mutation in the dihydropyrimidine dehydrogenase gene.

Shahrokni A et al.

Jop : Journal of the Pancreas, 2009

Pharmacogenetic analyses of hematotoxicity in advanced gastric cancer patients receiving biweekly fluorouracil, leucovorin, oxaliplatin and docetaxel (FLOT): a translational study of the Arbeitsgemeinschaft Internistische Onkologie (AIO).

Goekkurt E et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2009

Orotate phosphoribosyltransferase gene polymorphism predicts toxicity in patients treated with bolus 5-fluorouracil regimen.

Ichikawa W et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006

The relationship between 5-fluorouracil sensitivity and single nucleotide polymorphisms of the orotate phosphoribosyl transferase gene in colorectal cancer.

Kitajima M et al.

Oncology Reports, 2006

Genetic factors influencing pyrimidine-antagonist chemotherapy.

Maring JG et al.

The Pharmacogenomics Journal, 2005

Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.

Suchi M et al.

American Journal of Human Genetics, 1997

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