Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.V57E
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AKR1B1

NM_001628.4:p.V57E

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

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

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

Rocca MS et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Genomic landscape of circulating tumour DNA in metastatic extramammary Paget's disease.

Sawamura S et al.

Experimental Dermatology, 2022

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

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

Androgen receptor mutations and polymorphisms in African American prostate cancer.

Koochekpour S et al.

International Journal of Biological Sciences, 2014

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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."