Varaico: Literature-Extracted Genetic Variants

Gene:FMO3
Variant:p.P153L
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FMO3

NM_001002294.3:p.P153L

Associated Papers

Adipocyte FMO3-derived TMAO induces WAT dysfunction and metabolic disorders by promoting inflammasome activation in ageing.

Ganapathy T et al.

Nature Communications, 2025

Exploring Trimethylaminuria: Genetics and Molecular Mechanisms, Epidemiology, and Emerging Therapeutic Strategies.

Sidoti A et al.

Biology, 2024

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.

Zhang T et al.

Peerj, 2024

39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT

Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes.

Alibrandi S et al.

Molecules (basel, Switzerland), 2021

Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Kim B et al.

Translational and Clinical Pharmacology, 2021

34621706 (PubMed )
Supplement: tcp-29-135-s001.xls › tcp-29-135-s001

Flavin-containing monooxygenase 3 (FMO3): genetic variants and their consequences for drug metabolism and disease.

Phillips IR et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2020

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing.

Bouchemal N et al.

Orphanet Journal of Rare Diseases, 2019

The genetic and biochemical basis of trimethylaminuria in an Irish cohort.

Doyle S et al.

Jimd Reports, 2019

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Association of FMO3 Variants with Blood Pressure in the Atherosclerosis Risk in Communities Study.

Bryant TS et al.

International Journal of Hypertension, 2019

Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.

Kember RL et al.

Translational Psychiatry, 2018

30315151 (PubMed )
Supplement: 41398_2018_226_MOESM2_ESM.xlsx › Supplemental_Table_5

Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Tang D et al.

Scientific Reports, 2018

30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf

Genetic and Nongenetic Factors Associated with Protein Abundance of Flavin-Containing Monooxygenase 3 in Human Liver.

Xu M et al.

The Journal of Pharmacology and Experimental Therapeutics, 2017

Targeted sequencing identifies genetic polymorphisms of flavin-containing monooxygenase genes contributing to susceptibility of nicotine dependence in European American and African American.

Zhang TX et al.

Brain and Behavior, 2017

28413702 (PubMed )
Supplement: BRB3-7-e00651-s002.xlsx › Supplemental_Table_S1

A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea.

Kim JH et al.

Korean Journal of Pediatrics, 2017

Human flavin-containing monooxygenase 3: Structural mapping of gene polymorphisms and insights into molecular basis of drug binding.

Gao C et al.

Gene, 2016

Clinical utility gene card for: Trimethylaminuria - update 2014.

Shephard EA et al.

European Journal of Human Genetics : Ejhg, 2015

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients.

Ferreira F et al.

Gene, 2013

Molecular cloning, sequence characterization, SNP detection, and tissue expression analysis of duck FMO3 gene.

Wang P et al.

Molecular and Cellular Biochemistry, 2013

Survey of variants of human flavin-containing monooxygenase 3 (FMO3) and their drug oxidation activities.

Yamazaki H et al.

Biochemical Pharmacology, 2013

Quail FMO3 gene cloning, tissue expression profiling, polymorphism detection and association analysis with fishy taint in eggs.

Mo F et al.

Plos One, 2013

Variants in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population.

Shimizu M et al.

Molecular Genetics and Metabolism, 2012

Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder.

Christodoulou J

Journal of Paediatrics and Child Health, 2012

Clinical utility gene card for: trimethylaminuria.

Shephard EA et al.

European Journal of Human Genetics : Ejhg, 2012

Flavin-containing monooxygenases: mutations, disease and drug response.

Phillips IR et al.

Trends in Pharmacological Sciences, 2008

Flavin-containing monooxygenase 3 and human disease.

Motika MS et al.

Expert Opinion on Drug Metabolism & Toxicology, 2007

Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria.

Yeung CK et al.

Archives of Biochemistry and Biophysics, 2007

Trimethylaminuria (fish-odor syndrome): a case report.

Arseculeratne G et al.

Archives of Dermatology, 2007

A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene.

Teresa E et al.

Molecular Genetics and Metabolism, 2006

Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children.

Chalmers RA et al.

Journal of Inherited Metabolic Disease, 2006

Genetic polymorphisms of flavin monooxygenase 3 in sulindac-induced regression of colorectal adenomas in familial adenomatous polyposis.

Hisamuddin IM et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

Mammalian flavin-containing monooxygenases: structure/function, genetic polymorphisms and role in drug metabolism.

Krueger SK et al.

Pharmacology & Therapeutics, 2005

Genetic polymorphisms of human flavin monooxygenase 3 in sulindac-mediated primary chemoprevention of familial adenomatous polyposis.

Hisamuddin IM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2004

The implications of polymorphisms in mammalian flavin-containing monooxygenases in drug discovery and development.

Cashman JR

Drug Discovery Today, 2004

Trimethylaminuria and a human FMO3 mutation database.

Hernandez D et al.

Human Mutation, 2003

Deleterious mutations in the flavin-containing monooxygenase 3 (FMO3) gene causing trimethylaminuria.

Zhang J et al.

Pharmacogenetics, 2003

Fish odour syndrome with features of both primary and secondary trimethylaminuria.

Fraser-Andrews EA et al.

Clinical and Experimental Dermatology, 2003

Interindividual differences of human flavin-containing monooxygenase 3: genetic polymorphisms and functional variation.

Cashman JR et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2002

Population distribution of human flavin-containing monooxygenase form 3: gene polymorphisms.

Cashman JR et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2001

A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria.

Forrest SM et al.

Pharmacogenetics, 2001

Benzydamine N-oxidation as an index reaction reflecting FMO activity in human liver microsomes and impact of FMO3 polymorphisms on enzyme activity.

Störmer E et al.

British Journal of Clinical Pharmacology, 2000

Compound heterozygosity for missense mutations in the flavin-containing monooxygenase 3 (FM03) gene in patients with fish-odour syndrome.

Dolphin CT et al.

Pharmacogenetics, 2000

A novel mutation in the flavin-containing monooxygenase 3 gene, FM03, that causes fish-odour syndrome: activity of the mutant enzyme assessed by proton NMR spectroscopy.

Murphy HC et al.

Pharmacogenetics, 2000

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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."