Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.R264C
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CYP19A1

NM_000103.4:p.R264C

Associated Papers

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

Lee YB et al.

Archives of Biochemistry and Biophysics, 2025

Impact of CYP19A1 genetic variations on polycystic ovary syndrome: findings from a case-control study.

Chaudhary H et al.

F&s Science, 2025

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

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

The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosis.

Alwan AM et al.

Molecular Genetics & Genomic Medicine, 2021

The CYP19A1 rs700519 Polymorphism and Breast Cancer Susceptibility in China: A Case-Control Study and Updated Meta-Analysis.

Lv F et al.

Genetic Testing and Molecular Biomarkers, 2021

Polymorphism on human aromatase affects protein dynamics and substrate binding: spectroscopic evidence.

Di Nardo G et al.

Biology Direct, 2021

Discovery of breast cancer risk genes and establishment of a prediction model based on estrogen metabolism regulation.

Zhao F et al.

Bmc Cancer, 2021

CYP19 gene rs2414096 variant and differential genetic risk of polycystic ovary syndrome: a systematic review and meta-analysis.

Sharma P et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2021

The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China.

Yang T et al.

Clinical, Cosmetic and Investigational Dermatology, 2021

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

Pavithran H et al.

Journal of Genetics, 2021

Genetic Variation and Hot Flashes: A Systematic Review.

Crandall CJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.

Parween S et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function.

Praveen VP et al.

Journal of the Endocrine Society, 2020

Differential effects of variations in human P450 oxidoreductase on the aromatase activity of CYP19A1 polymorphisms R264C and R264H.

Parween S et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2020

Polycystic ovary syndrome (PCOS) and genetic predisposition: A review article.

Ajmal N et al.

European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 2019

Adenomyosis: genetics of estrogen metabolism.

Artymuk N et al.

Hormone Molecular Biology and Clinical Investigation, 2019

The Impact of Variants in Genes Associated with Estradiol Synthesis on Hormone Levels and Oocyte Retrieval in Patients Who Underwent Controlled Ovarian Hyperstimulation.

Amaro A et al.

Genetic Testing and Molecular Biomarkers, 2019

Germline mutation in the TP53 gene in uveal melanoma.

Hajkova N et al.

Scientific Reports, 2018

29769598 (PubMed )
Supplement: 41598_2018_26040_MOESM2_ESM.xlsx › Supplementary_Table_S1

Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology.

Dadachanji R et al.

Genetics Research International, 2018

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

Impact of R264C and R264H polymorphisms in human aromatase function.

Baravalle R et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2017

Association of genetic variations with pharmacokinetics and lipid-lowering response to atorvastatin in healthy Korean subjects.

Woo HI et al.

Drug Design, Development and Therapy, 2017

Genetic polymorphisms and haplotype of hormone-related genes are associated with the risk of breast cancer in Chinese women.

Pan Z et al.

Genetics and Molecular Research : Gmr, 2016

Polymorphisms in androgen metabolism genes AR, CYP1B1, CYP19, and SRD5A2and prostate cancer risk and aggressiveness in Bulgarian patients.

Kachakova D et al.

Turkish Journal of Medical Sciences, 2016

CYP19 gene polymorphisms and the susceptibility to breast cancer in Xinjiang Uigur women.

Yang L et al.

Genetics and Molecular Research : Gmr, 2015

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

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

Genetic polymorphisms in estrogen-related genes and the risk of breast cancer among Han Chinese women.

Sun MY et al.

International Journal of Molecular Sciences, 2015

Genetic variation in estrogen and progesterone pathway genes and breast cancer risk: an exploration of tumor subtype-specific effects.

Nyante SJ et al.

Cancer Causes & Control : Ccc, 2015

Polymorphic genetic variations of cytochrome P450 19A1 and T-cell leukemia 1A genes in the Tamil population.

Umamaheswaran G et al.

Environmental Toxicology and Pharmacology, 2015

Korean, Japanese, and Chinese populations featured similar genes encoding drug-metabolizing enzymes and transporters: a DMET Plus microarray assessment.

Yi S et al.

Pharmacogenetics and Genomics, 2014

Association of CYP19 polymorphisms with breast cancer risk: A case-control study.

Surekha D et al.

Journal of Natural Science, Biology, and Medicine, 2014

The sex-specific associations of the aromatase gene with Alzheimer's disease and its interaction with IL10 in the Epistasis Project.

Medway C et al.

European Journal of Human Genetics : Ejhg, 2014

Screening of a panel of steroid-related genes showed polymorphisms of aromatase genes confer susceptibility to advanced stage endometriosis in the Taiwanese Han population.

Wu CH et al.

Taiwanese Journal of Obstetrics & Gynecology, 2013

Haplotype structures and functional polymorphic variants of the drug target enzyme aromatase (CYP19A1) in South Indian population.

Umamaheswaran G et al.

Medical Oncology (northwood, London, England), 2013

Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.

Preissner SC et al.

Plos One, 2013

24340040 (PubMed )
Supplement: pone.0082562.s002.xlsx › CYP_SNP

Pharmacogenetics of anti-estrogen treatment of breast cancer.

Del Re M et al.

Cancer Treatment Reviews, 2012

Polymorphisms of CYP19A1 and response to aromatase inhibitors in metastatic breast cancer patients.

Ferraldeschi R et al.

Breast Cancer Research and Treatment, 2012

Pharmacogenomics of third-generation aromatase inhibitors.

Turkistani A et al.

Expert Opinion on Pharmacotherapy, 2012

Genetic polymorphism of estrogen metabolizing enzymes in Siberian women with breast cancer.

Khvostova EP et al.

Genetic Testing and Molecular Biomarkers, 2012

Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes.

Wang HS et al.

Plos One, 2012

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

[Construction of eukaryotic expression plasmids containing green fluorescent protein gene and CYP19 WT or its variants].

Shao XY et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2011

Estrogen receptor α and aromatase polymorphisms affect risk, prognosis, and therapeutic outcome in men with castration-resistant prostate cancer treated with docetaxel-based therapy.

Sissung TM et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Aromatase gene polymorphisms are associated with survival among patients with cardiovascular disease in a sex-specific manner.

Beitelshees AL et al.

Plos One, 2010

Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Isokpehi RD et al.

Bioinformatics and Biology Insights, 2010

20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_to_Cys

Association between CYP19 polymorphisms and breast cancer risk: results from 10,592 cases and 11,720 controls.

Ma X et al.

Breast Cancer Research and Treatment, 2010

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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."