Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C4
Variant:p.S145C
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AKR1C4

NM_001818.5:p.S145C

Associated Papers

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi E et al.

Genes, 2023

38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › SupplementaryTable2.xlsx › Foglio1

The lingering effects of Neanderthal introgression on human complex traits.

Wei X et al.

Elife, 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

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

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Germline_SNPs

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

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

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

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

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

Polymorphism Thr160Thr in SRD5A1, involved in the progesterone metabolism, modifies postmenopausal breast cancer risk associated with menopausal hormone therapy.

Hein R et al.

Breast Cancer Research and Treatment, 2012

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

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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."