Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.V54L
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SPATA7

NM_018418.5:p.V54L

Associated Papers

Structural and Functional Biology of Aldo-Keto Reductase Steroid-Transforming Enzymes.

Penning TM et al.

Endocrine Reviews, 2019

Characterization of hamster NAD+-dependent 3(17)β-hydroxysteroid dehydrogenase belonging to the aldo-keto reductase 1C subfamily.

Endo S et al.

Journal of Biochemistry, 2015

Human 3-alpha hydroxysteroid dehydrogenase type 3 (3α-HSD3): the V54L mutation restricting the steroid alternative binding and enhancing the 20α-HSD activity.

Zhang B et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2014

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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."