Varaico: Literature-Extracted Genetic Variants

Gene:FDXR
Variant:p.L57Q
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FDXR

NM_024417.5:p.L57Q

Associated Papers

Deep Sequencing Reveals Novel Mutations in Androgen Receptor-Related Genes in Prostate Cancer.

Pedroza-Torres A et al.

International Journal of Molecular Sciences, 2025

Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.

Palui R et al.

Indian Journal of Pediatrics, 2025

Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testing.

Uehara E et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2025

Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing.

Kim JH et al.

Investigative and Clinical Urology, 2024

Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families.

Yuan Z et al.

European Journal of Endocrinology, 2024

Genomic Characterization of Preclinical Prostate Cancer Cell Line Models.

Beatson EL et al.

International Journal of Molecular Sciences, 2024

Monitoring the Outcomes of Systemic Chemotherapy Including Immune Checkpoint Inhibitor for HER2-Positive Metastatic Gastric Cancer by Liquid Biopsy.

Jung SH et al.

Yonsei Medical Journal, 2023

Mutational Screening of Androgen Receptor Gene in 8224 Men of Infertile Couples.

Rocca MS et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.

Rjiba K et al.

Reproductive Biology and Endocrinology : Rb&e, 2023

Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.

Lieb V et al.

Cells, 2021

34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › AR_variants

Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).

Gong Y et al.

International Journal of Molecular Sciences, 2021

34445631 (PubMed )
Supplement: ijms-22-08924-s001.zip › Table_S1.pdf

Germline DNA Sequencing Reveals Novel Mutations Predictive of Overall Survival in a Cohort of Patients with Pancreatic Cancer.

Goldstein JB et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

Structural basis of species-selective antagonist binding to the succinate receptor.

Haffke M et al.

Nature, 2019

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Androgen receptor mutations and polymorphisms in African American prostate cancer.

Koochekpour S et al.

International Journal of Biological Sciences, 2014

Promoter-dependent activity on androgen receptor N-terminal domain mutations in androgen insensitivity syndrome.

Tadokoro-Cuccaro R et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2014

Constitutively-active androgen receptor variants function independently of the HSP90 chaperone but do not confer resistance to HSP90 inhibitors.

Gillis JL et al.

Oncotarget, 2013

23674566 (PubMed )
Supplement: oncotarget-04-691-s001.pdf

The impact of point mutations in the human androgen receptor: classification of mutations on the basis of transcriptional activity.

Hay CW et al.

Plos One, 2012

Androgen receptor sequence and variations in several common prostate cancer cell lines.

Baum CE et al.

Cancer Biology & Therapy, 2010

Somatic mutations at the trinucleotide repeats of androgen receptor gene in male hepatocellular carcinoma.

Yeh SH et al.

International Journal of Cancer, 2007

A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men.

Lund A et al.

Fertility and Sterility, 2003

Breast and prostate cancer: an analysis of common epidemiological, genetic, and biochemical features.

López-Otín C et al.

Endocrine Reviews, 1998

The androgen receptor gene mutations database.

Patterson MN et al.

Nucleic Acids Research, 1994

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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."