Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.V293E
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PSAT1

NM_058179.4:p.V293E

Associated Papers

[Next generation sequencing (NGS)-based molecular panel analysis for metastatic prostate cancer: how often can we detect druggable mutations? : NGS for metastatic adenocarcinoma of the prostate].

Steenbock O et al.

Urologie (heidelberg, Germany), 2025

Decoding the epigenetics and chromatin loop dynamics of androgen receptor-mediated transcription.

Altıntaş UB et al.

Nature Communications, 2024

39489778 (PubMed )
Supplement: 41467_2024_53758_MOESM2_ESM.pdf

Prevalence and Spectrum of AR Ligand-Binding Domain Mutations Detected in Circulating-Tumor DNA Across Disease States in Men With Metastatic Castration-Resistant Prostate Cancer.

Antonarakis ES et al.

Jco Precision Oncology, 2024

Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.

Xie MJ et al.

Plos Genetics, 2023

37812589 (PubMed )
Supplement: pgen.1010972.s017.xlsx › Table_S3

Functional analysis of androgen receptor mutations that confer anti-androgen resistance identified in circulating cell-free DNA from prostate cancer patients.

Lallous N et al.

Genome Biology, 2016

Abiraterone treatment in castration-resistant prostate cancer selects for progesterone responsive mutant androgen receptors.

Chen EJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

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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."