Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C2
Variant:p.I79V
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AKR1C2

NM_001393392.1:p.I79V

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

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

The aldo-keto reductases (AKRs): Overview.

Penning TM

Chemico-biological Interactions, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

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

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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."