Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.E197D
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SRD5A2

NM_000348.4:p.E197D

Associated Papers

Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development.

Kumar A et al.

Archives of Sexual Behavior, 2025

Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects.

Ramos L

Plos One, 2025

In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study.

Ramgir SS et al.

Journal of Obstetrics and Gynaecology of India, 2024

The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.

Seo J et al.

International Journal of Molecular Sciences, 2023

The Molecular Basis of 5α-Reductase Type 2 Deficiency.

Batista RL et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

Molecular Characterization of Two Known SRD5A2 Gene Variants in Mexican Patients With Disorder of Sexual Development.

María Guadalupe OL et al.

Frontiers in Genetics, 2021

Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride.

Xiao Q et al.

Nature Communications, 2020

Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.

Batista RL et al.

The Application of Clinical Genetics, 2020

Choice of gender in 5alpha-reductase deficiency: a moving target.

Houk CP et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005

Uniparental disomy in steroid 5alpha-reductase 2 deficiency.

Chávez B et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.

Wigley WC et al.

Biochemistry, 1994

Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.

Vilchis F et al.

Journal of Andrology, 0

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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."