Varaico: Literature-Extracted Genetic Variants

Gene:FMO3
Variant:p.E305*
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FMO3

NM_001002294.3:p.E305*

Associated Papers

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary

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

Sidoti A et al.

Biology, 2024

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

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

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

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

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

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

Doyle S et al.

Jimd Reports, 2019

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

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

Clinical utility gene card for: Trimethylaminuria - update 2014.

Shephard EA et al.

European Journal of Human Genetics : Ejhg, 2015

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7

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

Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria.

Motika MS et al.

Molecular Genetics and Metabolism, 2009

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

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

A nonsense mutation in the FMO3 gene underlies fishy off-flavor in cow's milk.

Lundén A et al.

Genome Research, 2002

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

Population-specific polymorphisms of the human FMO3 gene: significance for detoxication.

Cashman JR et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2000

Flavin monooxygenase 3 (FMO3) polymorphism in a white population: allele frequencies, mutation linkage, and functional effects on clozapine and caffeine metabolism.

Sachse C et al.

Clinical Pharmacology and Therapeutics, 1999

Mild trimethylaminuria caused by common variants in FMO3 gene.

Zschocke J et al.

Lancet (london, England), 1999

Two novel mutations of the FMO3 gene in a proband with trimethylaminuria.

Akerman BR et al.

Human Mutation, 1999

Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.

Treacy EP et al.

Human Molecular Genetics, 1998

[Another family with hereditary angioedema].

Hegyi E et al.

Bratislavske Lekarske Listy, 1987

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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."