Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.R365Q
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CYP19A1

NM_000103.4:p.R365Q

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_cSrc

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_cSrc

Bone Disease Associated with Inactivating Aromatase Mutations and its Management.

Cavati G et al.

Calcified Tissue International, 2025

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

Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature.

Fan L et al.

Clinical Endocrinology, 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

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

Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism.

Chen Z et al.

Molecular and Cellular Endocrinology, 2015

MutaCYP: Classification of missense mutations in human cytochromes P450.

Fechter K et al.

Bmc Medical Genomics, 2014

25073475 (PubMed )
Supplement: 1755-8794-7-47-S1.docx

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

Surekha D et al.

Journal of Natural Science, Biology, and Medicine, 2014

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence.

Belgorosky A et al.

Hormone Research, 2009

Human models of aromatase deficiency.

Zirilli L et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2008

[Rare forms of female pseudohermaphroditism: when to investigate?].

Castro Md et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2005

Aromatase and breast cancer: W39R, an inactive protein.

Nativelle-Serpentini C et al.

European Journal of Endocrinology, 2002

Aromatase deficiency and estrogen resistance: from molecular genetics to clinic.

Bulun SE

Seminars in Reproductive Medicine, 2000

Estrogen: consequences and implications of human mutations in synthesis and action.

Grumbach MM et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene.

Ludwig M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 0

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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."