Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K62R
Back to variants list

PTEN

NM_000314.8:p.K62R

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_S6

Distinguishing between PTEN clinical phenotypes through mutation analysis.

Portelli S et al.

Computational and Structural Biotechnology Journal, 2021

34141133 (PubMed )
Supplement: mmc1.docx

Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Hong TH et al.

Journal for Immunotherapy of Cancer, 2020

33077514 (PubMed )
Supplement: jitc-2020-001199supp002.pdf

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

PTEN in Hereditary and Sporadic Cancer.

Ngeow J et al.

Cold Spring Harbor Perspectives in Medicine, 2020

PTEN-opathies: from biological insights to evidence-based precision medicine.

Yehia L et al.

The Journal of Clinical Investigation, 2019

Multiplex assessment of protein variant abundance by massively parallel sequencing.

Matreyek KA et al.

Nature Genetics, 2018

29785012 (PubMed )
Supplement: NIHMS956040-supplement-2.doc

Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder.

Tilot AK et al.

Molecular Psychiatry, 2016

One-Tube-Only Standardized Site-Directed Mutagenesis: An Alternative Approach to Generate Amino Acid Substitution Collections.

Mingo J et al.

Plos One, 2016

Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production.

Tilot AK et al.

Human Molecular Genetics, 2014

Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.

He X et al.

Cancer Research, 2013

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt

Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

He X et al.

Human Molecular Genetics, 2011

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

Lobo GP et al.

Human Molecular Genetics, 2009

PTEN mutations are common in sporadic microsatellite stable colorectal cancer.

Nassif NT et al.

Oncogene, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."