Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L42P
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PTEN

NM_000314.8:p.L42P

Associated Papers

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

Classification of PTEN germline non-truncating variants: a new approach to interpretation.

Margot H et al.

Journal of Medical Genetics, 2024

Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.

Serebriiskii IG et al.

Npj Genomic Medicine, 2023

38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6

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

Distinguishing between PTEN clinical phenotypes through mutation analysis.

Portelli S et al.

Computational and Structural Biotechnology Journal, 2021

34141133 (PubMed )
Supplement: mmc1.docx

Genome-wide mutation profiles of colorectal tumors and associated liver metastases at the exome and transcriptome levels.

Lim B et al.

Oncotarget, 2015

26109429 (PubMed )
Supplement: oncotarget-06-22179-s002.xls › Table_S4.

A new class of cancer-associated PTEN mutations defined by membrane translocation defects.

Nguyen HN et al.

Oncogene, 2015

25263454 (PubMed )
Supplement: NIHMS619140-supplement-2.pdf

A functional dissection of PTEN N-terminus: implications in PTEN subcellular targeting and tumor suppressor activity.

Gil A et al.

Plos One, 2015

Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Brannon AR et al.

Genome Biology, 2014

25164765 (PubMed )
Supplement: 13059_2014_454_MOESM1_ESM.xlsx › Sheet1

In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.

Andrés-Pons A et al.

Cancer Research, 2007

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."