Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.R308C
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PTEN

NM_000314.8:p.R308C

Associated Papers

Mismatch Repair Proficient Colorectal Adenocarcinoma in Two Patients With Lynch Syndrome.

Khandakar B et al.

Clinical Genetics, 2025

Cancer and disease profiles for PTEN pathogenic variants in Japanese population.

Kanazashi Y et al.

Journal of Human Genetics, 2025

39663357 (PubMed )
Supplement: 10038_2024_1311_MOESM1_ESM.xlsx › Table_S9

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.

Dawood M et al.

Genome Medicine, 2024

39627863 (PubMed )
Supplement: 13073_2024_1392_MOESM1_ESM.xlsx › Table_S19

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

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

Proteomic and yeast 2-hybrid screens to identify PTEN binding partners.

Tibarewal P et al.

Advances in Biological Regulation, 2024

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

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_1.xlsx › S_Data_1

Prevalence of APC and PTEN Alterations in Urachal Cancer.

Nagy N et al.

Pathology Oncology Research : Por, 2020

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

PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue.

Yokota T et al.

Bmc Cancer, 2018

30115035 (PubMed )
Supplement: 12885_2018_4733_MOESM1_ESM.xlsx › raw_data_of_mutations

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

Genetic alterations of PTEN in human melanoma.

Aguissa-Touré AH et al.

Cellular and Molecular Life Sciences : Cmls, 2012

PAkt, cyclin D1 and p27/Kip.1 in glioblastomas with and without EGFR amplification and PTEN mutation.

Fiano V et al.

Anticancer Research, 0

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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."