Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C4
Variant:p.G135E
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AKR1C4

NM_001818.5:p.G135E

Associated Papers

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

Detlefsen AJ et al.

International Journal of Molecular Sciences, 2023

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx

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

Platt A et al.

Pharmacogenetics and Genomics, 2016

Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism.

Rižner TL et al.

Steroids, 2014

Naturally occurring variants of human aldo-keto reductases with reduced in vitro metabolism of daunorubicin and doxorubicin.

Bains OS et al.

The Journal of Pharmacology and Experimental Therapeutics, 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."