Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L320V
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PTEN

NM_000314.8:p.L320V

Associated Papers

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

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

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_S5_increase_aggreg_analysis.xlsx › Hydrophob._miss_trunc_ins_dels

Characterization of PTEN mutations in brain cancer reveals that pten mono-ubiquitination promotes protein stability and nuclear localization.

Yang JM et al.

Oncogene, 2017

28263967 (PubMed )
Supplement: onc2016493x4.pdf

Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles.

Farshidfar F et al.

Cell Reports, 2017

28297679 (PubMed )
Supplement: NIHMS866722-supplement-2.xlsx › ST2._Validation_Gene_Mutations
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