Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C3
Variant:p.R258C
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AKR1C3

NM_003739.6:p.R258C

Associated Papers

In Vitro Evaluation of the Reductase Activities of Human AKR1C3 Allelic Variants.

Takano S et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2023

Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases.

Detlefsen AJ et al.

International Journal of Molecular Sciences, 2023

Characterization of the major single nucleotide polymorphic variants of aldo-keto reductase 1C3 (type 5 17β-hydroxysteroid dehydrogenase).

Detlefsen AJ et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2022

Pharmacogenetics of aldo-keto reductase 1C (AKR1C) enzymes.

Alshogran OY

Expert Opinion on Drug Metabolism & Toxicology, 2017

A role for TENM1 mutations in congenital general anosmia.

Alkelai A et al.

Clinical Genetics, 2016

27040985 (PubMed )
Supplement: supplement_1.pdf

Impact of nonsynonymous single nucleotide polymorphisms on in-vitro metabolism of exemestane by hepatic cytosolic reductases.

Platt A et al.

Pharmacogenetics and Genomics, 2016

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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."