Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.G230*
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PTEN

NM_000314.8:p.G230*

Associated Papers

Circulating tumor DNA landscape and prognostic impact of acquired resistance to targeted therapies in cancer patients: a national center for precision medicine (PRISM) study.

Bayle A et al.

Molecular Cancer, 2023

37924050 (PubMed )
Supplement: 12943_2023_1878_MOESM2_ESM.xlsx › Feuil1

Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants.

Torices L et al.

Plos One, 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

Genomic landscape of gliosarcoma: distinguishing features and targetable alterations.

Zaki MM et al.

Scientific Reports, 2021

A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons.

Luna S et al.

Human Mutation, 2021

Circulating tumor DNA analysis depicts subclonal architecture and genomic evolution of small cell lung cancer.

Nong J et al.

Nature Communications, 2018

30082701 (PubMed )
Supplement: 41467_2018_5327_MOESM6_ESM.xlsx › ___1

High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

Masaki T et al.

Pigment Cell & Melanoma Research, 2014

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

Wang Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

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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."