Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.P30L
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PTEN

NM_000314.8:p.P30L

Associated Papers

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

Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.

Reijnen C et al.

International Journal of Cancer, 2020

32022266 (PubMed )
Supplement: IJC-147-478-s001.pdf

CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants.

Zhang L et al.

Clinical and Translational Science, 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

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S6_German_patients_mutations

A pathogenic role for germline PTEN variants which accumulate into the nucleus.

Mingo J et al.

European Journal of Human Genetics : Ejhg, 2018

Drug-sensitive FGFR3 mutations in lung adenocarcinoma.

Chandrani P et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2017

27998968 (PubMed )
Supplement: mdw636_supp.zip › Chandrani_et_al._suppl_tables_20161110.xlsx › S3.Variants

PREDICTING SIGNIFICANCE OF UNKNOWN VARIANTS IN GLIAL TUMORS THROUGH SUB-CLASS ENRICHMENT.

Fichtenholtz AM et al.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2016

Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.

Mulugeta S et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2015

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Spinelli L et al.

Journal of Medical Genetics, 2015

25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

Bubien V et al.

Journal of Medical Genetics, 2013

Genetic alterations of PTEN in human melanoma.

Aguissa-Touré AH et al.

Cellular and Molecular Life Sciences : Cmls, 2012

Genome-wide loss of heterozygosity and copy number analysis in melanoma using high-density single-nucleotide polymorphism arrays.

Stark M et al.

Cancer Research, 2007

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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."