Varaico: Literature-Extracted Genetic Variants

Gene:AKR1D1
Variant:p.E120Q
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AKR1D1

NM_005989.4:p.E120Q

Associated Papers

Conversion of human steroid 5β-reductase (AKR1D1) into 3β-hydroxysteroid dehydrogenase by single point mutation E120H: example of perfect enzyme engineering.

Chen M et al.

The Journal of Biological Chemistry, 2012

Crystal structure of human liver Delta4-3-ketosteroid 5beta-reductase (AKR1D1) and implications for substrate binding and catalysis.

Di Costanzo L et al.

The Journal of Biological Chemistry, 2008

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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."