Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.V80V
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CYP19A1

NM_000103.4:p.V80V

Associated Papers

Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.

Kaissarian NM et al.

Journal of the National Cancer Institute, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Catechol-O-methyltransferase 158G/A polymorphism and endometriosis/adenomyosis susceptibility: A meta-analysis in the Chinese population.

Li YW et al.

Journal of Cancer Research and Therapeutics, 2018

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

Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and "freeze-all": in-depth analysis of genetic predisposition.

Santos-Ribeiro S et al.

Journal of Assisted Reproduction and Genetics, 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

CYP19 gene variant confers susceptibility to endometriosis-associated infertility in Chinese women.

Wang L et al.

Experimental & Molecular Medicine, 2014

Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men.

Bayer J et al.

Hippocampus, 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

Association of endometriosis risk and genetic polymorphisms involving biosynthesis of sex steroids and their receptors: an updating meta-analysis.

Hu X et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2012

[Association of the CYP19 gene polymorphism with genetic susceptibility to endometriosis].

Yang X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2010

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

Lee SJ et al.

Journal of Human Genetics, 2010

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

Polymorphisms and haplotypes of the gene encoding the estrogen-metabolizing CYP19 gene in Korean women: no association with advanced-stage endometriosis.

Hur SE et al.

Journal of Human Genetics, 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

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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."