Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.D268Y
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PTEN

NM_000314.8:p.D268Y

Associated Papers

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

Distinct mutational pattern of T-cell large granular lymphocyte leukemia combined with pure red cell aplasia: low mutational burden of STAT3.

Park S et al.

Scientific Reports, 2023

37142644 (PubMed )
Supplement: 41598_2023_33928_MOESM2_ESM.xlsx › Supplementary_Table_2

Circulating Cell-Free DNA-Based Comprehensive Molecular Analysis of Biliary Tract Cancers Using Next-Generation Sequencing.

Csoma SL et al.

Cancers, 2022

A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.

Ganguly P et al.

Plos Genetics, 2021

34492006 (PubMed )
Supplement: pgen.1009774.s010.xlsx › Annotation_of_PTEN_variants

Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.

Palumbo E et al.

Journal of Biomolecular Structure & Dynamics, 2020

31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S6_decrease_aggreg_analysis.xlsx › Intrinsic_Disorder_all
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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."