Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.R264H
Back to variants list

CYP19A1

NM_000103.4:p.R264H

Associated Papers

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

Di Nardo G et al.

Biology Direct, 2021

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

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

Impact of R264C and R264H polymorphisms in human aromatase function.

Baravalle R et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2017

CYP19 haplotypes increase risk for Alzheimer's disease.

Huang R et al.

Journal of Medical Genetics, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."