Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.A49T
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SRD5A2

NM_000348.4:p.A49T

Associated Papers

A scoping review of the role of heritability and environmental exposures in the development and severity of benign prostatic hyperplasia.

Daryabari SS et al.

Translational Andrology and Urology, 2025

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

A comprehensive systematic review of studies on the potential of A49T and V89L polymorphism in SRD5AR2 as high susceptibility gene association with benign prostate hyperplasia and prostate cancer.

Maharani R et al.

Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 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

Human Cytochrome P450 Cancer-Related Metabolic Activities and Gene Polymorphisms: A Review.

Mokhosoev IM et al.

Cells, 2024

Polymorphisms of androgens-related genes and idiopathic male infertility in Turkish men.

Metin Mahmutoglu A et al.

Andrologia, 2022

Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.

Mehta P et al.

Andrologia, 2021

Steroid 5 alpha-reductase 2 enzyme variants, biomass exposure and tobacco use in Mexican patients with prostate cancer.

Delgado-Balderas JR et al.

Oncology Letters, 2020

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

Xiao Q et al.

Nature Communications, 2020

33110062 (PubMed )
Supplement: 41467_2020_19249_MOESM2_ESM.pdf

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.

Arya S et al.

European Journal of Endocrinology, 2020

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

Xiao Q et al.

Research Square, 2020

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

Batista RL et al.

The Application of Clinical Genetics, 2020

Etiology of Hypospadias: A Comparative Review of Genetic Factors and Developmental Processes Between Human and Animal Models.

Chang J et al.

Research and Reports in Urology, 2020

Novel Genotype in Two Siblings with 5-α-reductase 2 Deficiency: Different Clinical Course due to the Time of Diagnosis.

Kocova M et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity.

Katharopoulos E et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2019

The genetic factors contributing to hypospadias and their clinical utility in its diagnosis.

Joodi M et al.

Journal of Cellular Physiology, 2019

A 5α-reductase (SRD5A2) polymorphism is associated with serum testosterone and sex hormone-binding globulin in men, while aromatase (CYP19A1) polymorphisms are associated with oestradiol and luteinizing hormone reciprocally.

Yeap BB et al.

Clinical Endocrinology, 2019

Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency.

Marzuki NS et al.

International Journal of Endocrinology, 2019

Single-nucleotide and copy-number variance related to severity of hypospadias.

Singh N et al.

Pediatric Surgery International, 2018

5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.

Avendaño A et al.

Hormones (athens, Greece), 2018

The molecular biology of prostate cancer: current understanding and clinical implications.

Gandhi J et al.

Prostate Cancer and Prostatic Diseases, 2018

Longer TA repeat but not V89L polymorphisms in the SRD5A2 gene may confer acne risk in the Chinese population.

Hu X et al.

Postepy Dermatologii I Alergologii, 2018

Molecular Analysis of the SRD5A1 and SRD5A2 Genes in Patients with Benign Prostatic Hyperplasia with Regard to Metabolic Parameters and Selected Hormone Levels.

Rył A et al.

International Journal of Environmental Research and Public Health, 2017

Relationship between SRD5A2 rs9282858 polymorphism and the susceptibility of prostate cancer: A meta-analysis based on 20 publications.

Fang C et al.

Medicine, 2017

Association of SRD5A2 gene mutations with risk of hypospadias in the Iranian population.

Rahimi M et al.

Journal of Endocrinological Investigation, 2017

Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness.

Heilmann-Heimbach S et al.

Nature Communications, 2017

Genotyping the High Altitude Mestizo Ecuadorian Population Affected with Prostate Cancer.

López-Cortés A et al.

Biomed Research International, 2017

Association between SRD5A2 rs523349 and rs9282858 Polymorphisms and Risk of Benign Prostatic Hyperplasia: A Meta-Analysis.

Zeng XT et al.

Frontiers in Physiology, 2017

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.

Eren E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2016

Systematic meta-analyses of gene-specific genetic association studies in prostate cancer.

Hao Q et al.

Oncotarget, 2016

Polymorphisms in androgen metabolism genes AR, CYP1B1, CYP19, and SRD5A2and prostate cancer risk and aggressiveness in Bulgarian patients.

Kachakova D et al.

Turkish Journal of Medical Sciences, 2016

Epidemiological and Mendelian Randomization Studies of Dihydrotestosterone and Estradiol and Leukocyte Telomere Length in Men.

Yeap BB et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Impact of Candidate Genetic Polymorphisms in Prostate Cancer: An Overview.

Salvi S et al.

Molecular Diagnosis & Therapy, 2016

Single-nucleotide polymorphism in the 5-α-reductase gene (SRD5A2) is associated with increased prevalence of metabolic syndrome in chemotherapy-treated testicular cancer survivors.

Boer H et al.

European Journal of Cancer (oxford, England : 1990), 2016

The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene.

Moura-Massari VO et al.

Plos One, 2016

A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency.

Kaupert LC et al.

Hormone Research in Paediatrics, 2016

Associations between the SRD5A2 gene V89L and TA repeat polymorphisms and breast cancer risk: a meta-analysis.

Zhang D et al.

Genetics and Molecular Research : Gmr, 2015

A49T, R227Q and TA repeat polymorphism of steroid 5 alpha-reductase type II gene and Hypospadias risk in North Indian children.

Samtani R et al.

Meta Gene, 2015

The association of 5-alpha reductase type 2 (SRD5A2) gene polymorphisms with prostate cancer in a Korean population.

Choi SY et al.

Korean Journal of Urology, 2015

SRD5A2 gene polymorphisms and the risk of benign prostatic hyperplasia but not prostate cancer.

Choubey VK et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2015

Polymorphism of the SRD5A2 gene and the risk of prostate cancer.

Dušenka R et al.

Molecular Medicine Reports, 2014

Genetic variations associated with the effect of testicular cancer treatment on gonadal hormones.

Aschim EL et al.

Human Reproduction (oxford, England), 2014

46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene.

Chávez B et al.

Molecular Genetics & Genomic Medicine, 2014

Estrogen receptor alpha gene polymorphisms and risk of prostate cancer: a meta-analysis involving 18 studies.

Gu Z et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014

SRD5A2 gene polymorphisms affect the risk of breast cancer.

Francis A et al.

Breast (edinburgh, Scotland), 2014

Hybrid curation of gene-mutation relations combining automated extraction and crowdsourcing.

Burger JD et al.

Database : the Journal of Biological Databases and Curation, 2014

25246425 (PubMed )
Supplement: supp_bau094_Appendix_D_v30.docx

Steroid 5-alpha-reductase type 2 (SRD5A2) V89L and A49T polymorphisms and sporadic prostate cancer risk: a meta-analysis.

Li Q et al.

Molecular Biology Reports, 2013

Association of a tagging single nucleotide polymorphism in the androgen receptor gene region with susceptibility to severe hypospadias in a Caucasian population.

Adamovic T et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013

Association of V89L SRD5A2 polymorphism with craving and serum leptin levels in male alcohol addicts.

Lenz B et al.

Psychopharmacology, 2012

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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."