Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1
Variant:p.L213Q
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AKR1C1

NM_001353.6:p.L213Q

Associated Papers

Comprehensive analysis of the deleterious nonsynonymous, non-coding SNPs and cancer variants of human aldo-keto reductase type 1 (AKR1C1) protein and their probable association with disease risk and progression: a computational study.

Nila NN et al.

Biochemistry and Biophysics Reports, 2026

Aldo-keto reductase 1C2 (AKR1C2) as the second gene associated to non-syndromic primary lipedema: investigating activating mutation or overexpression as causative factors.

Kaftalli J et al.

European Review for Medical and Pharmacological Sciences, 2023

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

Detlefsen AJ et al.

International Journal of Molecular Sciences, 2023

Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema.

Michelini S et al.

International Journal of Molecular Sciences, 2020

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