Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.T201M
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CYP19A1

NM_000103.4:p.T201M

Associated Papers

Molecular insights into CYP19A1 mutations and their role in estrogen production.

Lee YB et al.

Archives of Biochemistry and Biophysics, 2025

CYP19A1 mediates severe SARS-CoV-2 disease outcome in males.

Stanelle-Bertram S et al.

Cell Reports. Medicine, 2023

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

In silico analysis of nsSNPs in CYP19A1 gene affecting breast cancer associated aromatase enzyme.

Pavithran H et al.

Journal of Genetics, 2021

Adenomyosis: genetics of estrogen metabolism.

Artymuk N et al.

Hormone Molecular Biology and Clinical Investigation, 2019

Exemestane potency is unchanged by common nonsynonymous polymorphisms in CYP19A1: results of a novel anti-aromatase activity assay examining exemestane and its derivatives.

Peterson A et al.

Pharmacology Research & Perspectives, 2017

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs

Role of cytochrome P450 genes in breast cancer etiology and treatment: effects on estrogen biosynthesis, metabolism, and response to endocrine therapy.

Blackburn HL et al.

Cancer Causes & Control : Ccc, 2015

A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture.

Wang JZ et al.

Bmc Medical Genetics, 2011

Identification of CYP19A1 single-nucleotide polymorphisms and their haplotype distributions in a Korean population.

Lee SJ et al.

Journal of Human Genetics, 2010

Polymorphisms in estrogen biosynthesis and metabolism-related genes, ionizing radiation exposure, and risk of breast cancer among US radiologic technologists.

Sigurdson AJ et al.

Breast Cancer Research and Treatment, 2009

CYP19A1 genetic variation in relation to prostate cancer risk and circulating sex hormone concentrations in men from the Breast and Prostate Cancer Cohort Consortium.

Travis RC et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2009

In vitro kinetic properties of the Thr201Met variant of human aromatase gene CYP19A1: functional responses to substrate and product inhibition and enzyme inhibitors.

Payne EJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450.

Wang LL et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2009

The interaction of CYP3A5 polymorphisms along the androgen metabolism pathway in prostate cancer.

Vaarala MH et al.

International Journal of Cancer, 2008

A comprehensive examination of CYP19 variation and risk of breast cancer using two haplotype-tagging approaches.

Olson JE et al.

Breast Cancer Research and Treatment, 2007

Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women.

Haiman CA et al.

Cancer Research, 2007

Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single nucleotide polymorphisms and their combinations as prostate cancer risk factors.

Mononen N et al.

Cancer Research, 2006

Human aromatase: gene resequencing and functional genomics.

Ma CX et al.

Cancer Research, 2005

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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."