Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.N12T
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PTEN

NM_000314.8:p.N12T

Associated Papers

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_S8

Classification of PTEN missense VUS through exascale simulations.

Sinha S et al.

Briefings in Bioinformatics, 2023

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN

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

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Post KL et al.

Nature Communications, 2020

Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.

Li K et al.

Frontiers in Genetics, 2020

33408741 (PubMed )
Supplement: Table_3.XLSX › Sheet2

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

Mingo J et al.

European Journal of Human Genetics : Ejhg, 2018

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

Hansen-Kiss E et al.

Journal of Medical Genetics, 2017

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
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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."