Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K128_R130del3
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PTEN

NM_000314.8:p.K128_R130del3

Associated Papers

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S2

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.

Lincoln SE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34007000 (PubMed )
Supplement: 41436_2021_1187_MOESM2_ESM.xlsx › Table_S6

PTEN dephosphorylates AKT to prevent the expression of GLUT1 on plasmamembrane and to limit glucose consumption in cancer cells.

Phadngam S et al.

Oncotarget, 2016

Ovarian cancer cell line panel (OCCP): clinical importance of in vitro morphological subtypes.

Beaufort CM et al.

Plos One, 2014

25230021 (PubMed )
Supplement: pone.0103988.s007.xlsx › paper_mutation_table
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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."