Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C3
Variant:p.H5Q
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AKR1C3

NM_003739.6:p.H5Q

Associated Papers

A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing.

Perez-Dionisio E et al.

Archives of Endocrinology and Metabolism, 2025

Aldo-keto reductase family 1 member C3 (AKR1C3) gene polymorphism (rs12529) is associated with breast cancer in Bangladeshi population: A case-control study and computational investigation.

Shaon MA et al.

Plos One, 2025

Influence of aldo-keto reductase 1C3 polymorphisms in early-onset female psoriasis patients.

Nojiri Y et al.

Scientific Reports, 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

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

Characterization of the major single nucleotide polymorphic variants of aldo-keto reductase 1C3 (type 5 17β-hydroxysteroid dehydrogenase).

Detlefsen AJ et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2022

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

Klotho Polymorphism in Association With Serum Testosterone and Knee Strength in Women After Testosterone Administration.

Ekström L et al.

Frontiers in Physiology, 2022

The association between missense polymorphisms in SRD5A2 and HSD3B1 and treatment failure with abiraterone for castration-resistant prostate cancer.

Shiota M et al.

The Pharmacogenomics Journal, 2021

Whole genome, exon mutation and transcriptomic profiling of acute myeloid leukemia: A case report.

Lai SH et al.

Oncology Letters, 2021

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7

Polymorphisms in androgen metabolism genes with serum testosterone levels and prognosis in androgen-deprivation therapy.

Shiota M et al.

Urologic Oncology, 2020

Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in subjects 46,XY with hypospadias.

Mares L et al.

Journal of Pediatric Urology, 2020

Pharmacogenetics of aldo-keto reductase 1C (AKR1C) enzymes.

Alshogran OY

Expert Opinion on Drug Metabolism & Toxicology, 2017

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Lonjou C et al.

Bmc Cancer, 2017

28499365 (PubMed )
Supplement: 12885_2017_3314_MOESM1_ESM.xls › SupplTableS1.xls

Impact of nonsynonymous single nucleotide polymorphisms on in-vitro metabolism of exemestane by hepatic cytosolic reductases.

Platt A et al.

Pharmacogenetics and Genomics, 2016

Association of AKR1C3 Polymorphisms with Bladder Cancer.

Tiryakioglu NO et al.

Urology Journal, 2016

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias.

Söderhäll C et al.

European Journal of Human Genetics : Ejhg, 2015

The pharmacogenetics of alcohol use disorder.

Jones JD et al.

Alcoholism, Clinical and Experimental Research, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06Q-01A.domain

Variation in AKR1C3, which encodes the neuroactive steroid synthetic enzyme 3α-HSD type 2 (17β-HSD type 5), moderates the subjective effects of alcohol.

Milivojevic V et al.

Psychopharmacology, 2014

Variation in genes encoding the neuroactive steroid synthetic enzymes 5α-reductase type 1 and 3α-reductase type 2 is associated with alcohol dependence.

Milivojevic V et al.

Alcoholism, Clinical and Experimental Research, 2011

Analysis of 17beta-hydroxysteroid dehydrogenase types 5, 7, and 12 genetic sequence variants in breast cancer cases from French Canadian Families with high risk of breast and ovarian cancer.

Plourde M et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2009

Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

Figueroa JD et al.

Carcinogenesis, 2008

Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer.

Cunningham JM et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

Variant in sex hormone-binding globulin gene and the risk of prostate cancer.

Berndt SI et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

Polymorphisms in genes involved in sex hormone metabolism may increase risk of benign prostatic hyperplasia.

Roberts RO et al.

The Prostate, 2006

Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single nucleotide polymorphisms and their combinations as prostate cancer risk factors.

Mononen N et al.

Cancer Research, 2006

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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."