Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C4
Variant:p.L311V
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AKR1C4

NM_001818.5:p.L311V

Associated Papers

Genetic and computational analysis of AKR1C4 gene rs17134592 polymorphism in breast cancer among the Bangladeshi population.

Shaon MA et al.

Scientific Reports, 2025

The lingering effects of Neanderthal introgression on human complex traits.

Wei X et al.

Elife, 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

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

The Impact of Age and Genetics on Naltrexone Biotransformation.

Stancil SL et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2022

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s009.xlsx › Sheet1

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

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

Mares L et al.

Journal of Pediatric Urology, 2020

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Hou YC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

31980526 (PubMed )
Supplement: pnas.1909378117.sapp.pdf

Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in postmenopausal patients with breast cancer.

Hertz DL et al.

The Pharmacogenomics Journal, 2017

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

Alshogran OY

Expert Opinion on Drug Metabolism & Toxicology, 2017

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

Platt A et al.

Pharmacogenetics and Genomics, 2016

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

Disciglio V et al.

Chinese Journal of Cancer, 2016

27267075 (PubMed )
Supplement: 40880_2016_115_MOESM5_ESM.xlsx › Table_S5

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density.

Rudolph A et al.

Breast Cancer Research : Bcr, 2015

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1

Hormone metabolism pathway genes and mammographic density change after quitting estrogen and progestin combined hormone therapy in the California Teachers Study.

Lee E et al.

Breast Cancer Research : Bcr, 2014

Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism.

Rižner TL et al.

Steroids, 2014

Discovery and refinement of loci associated with lipid levels.

Willer CJ et al.

Nature Genetics, 2013

24097068 (PubMed )
Supplement: NIHMS524703-supplement-1.pdf

Single-nucleotide polymorphisms in reductase genes are not associated with response to daunorubicin-based remission induction.

Lubieniecka JM et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2013

Hormone metabolism genes and mammographic density in Singapore Chinese women.

Lee E et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2013

The association of polymorphisms in hormone metabolism pathway genes, menopausal hormone therapy, and breast cancer risk: a nested case-control study in the California Teachers Study cohort.

Lee E et al.

Breast Cancer Research : Bcr, 2011

21457551 (PubMed )
Supplement: bcr2859-S1.DOCX

Naturally occurring variants of human aldo-keto reductases with reduced in vitro metabolism of daunorubicin and doxorubicin.

Bains OS et al.

The Journal of Pharmacology and Experimental Therapeutics, 2010

Two allelic variants of aldo-keto reductase 1A1 exhibit reduced in vitro metabolism of daunorubicin.

Bains OS et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2008

Human aldo-keto reductases: Function, gene regulation, and single nucleotide polymorphisms.

Penning TM et al.

Archives of Biochemistry and Biophysics, 2007

Polymorphisms in genes involved in estrogen and progesterone metabolism and mammographic density changes in women randomized to postmenopausal hormone therapy: results from a pilot study.

Lord SJ et al.

Breast Cancer Research : Bcr, 2005

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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."