Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K128R
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PTEN

NM_000314.8:p.K128R

Associated Papers

Mechanism of the enterobacterial metabolite sodium butyrate mediating ferroptosis to affect osteogenic ability of BMSCs in mice with estrogen deficiency-caused osteoporosis via the PTEN/PI3K/AKT pathway.

Li Y et al.

Apoptosis : an International Journal on Programmed Cell Death, 2025

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM13_ESM.xlsx › germline_snv_indel

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-12.xlsx › TableS11A-germline_snv_indel

Multiparametric Classification of Non-Muscle Invasive Papillary Urothelial Neoplasms: Combining Morphological, Phenotypical, and Molecular Features for Improved Risk Stratification.

Montes-Mojarro IA et al.

International Journal of Molecular Sciences, 2022

35897708 (PubMed )
Supplement: ijms-23-08133-s001.zip › ijms-1819103-supplementary.pdf

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

PTEN Regulates Nonhomologous End Joining By Epigenetic Induction of NHEJ1/XLF.

Sulkowski PL et al.

Molecular Cancer Research : Mcr, 2018

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

Rodríguez-Escudero I et al.

Human Molecular Genetics, 2011

PCAF modulates PTEN activity.

Okumura K et al.

The Journal of Biological Chemistry, 2006

Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.

Lee JO et al.

Cell, 1999

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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."