Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.Q171P
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PTEN

NM_000314.8:p.Q171P

Associated Papers

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › PTEN

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Clinically relevant glioblastoma patient-derived xenograft models to guide drug development and identify molecular signatures.

Alcaniz J et al.

Frontiers in Oncology, 2023

37114125 (PubMed )
Supplement: Table_1.xlsx › Mutations

Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.

Serebriiskii IG et al.

Nature Communications, 2022

35338148 (PubMed )
Supplement: 41467_2022_29227_MOESM6_ESM.xlsx › Supplemenraty_Data_3

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_S4_mutants_nochange.xlsx › Mutants_no_change

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Mao Y et al.

Plos One, 2013

24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S1

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

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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."