Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C2
Variant:p.N300T
Back to variants list

AKR1C2

NM_001393392.1:p.N300T

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

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

The aldo-keto reductases (AKRs): Overview.

Penning TM

Chemico-biological Interactions, 2015

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

Rižner TL et al.

Steroids, 2014

Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development.

Fukami M et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2013

The syndrome of 17,20 lyase deficiency.

Miller WL

The Journal of Clinical Endocrinology and Metabolism, 2012

Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.

Flück CE et al.

American Journal of Human Genetics, 2011

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."