Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.D384V
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PTEN

NM_000314.8:p.D384V

Associated Papers

Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.

Tibarewal P et al.

Disease Models & Mechanisms, 2026

Nuclear PTEN's Functions in Suppressing Tumorigenesis: Implications for Rare Cancers.

Langdon CG

Biomolecules, 2023

The HECT family of E3 ubiquitin ligases and PTEN.

Song MS et al.

Seminars in Cancer Biology, 2022

Generating a new mouse model for nuclear PTEN deficiency by a single K13R mutation.

Kato T et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2021

Nuclear PTEN deficiency and heterozygous PTEN loss have distinct impacts on brain and lymph node size.

Igarashi A et al.

Biochemical and Biophysical Research Communications, 2021

Nuclear PTEN and p53 suppress stress-induced liver cancer through distinct mechanisms.

Kato T et al.

Biochemical and Biophysical Research Communications, 2021

The Loss of Nuclear PTEN Increases Tumorigenesis in a Preclinical Mouse Model for Hepatocellular Carcinoma.

Kato T et al.

Iscience, 2020

Nuclear PTEN deficiency causes microcephaly with decreased neuronal soma size and increased seizure susceptibility.

Igarashi A et al.

The Journal of Biological Chemistry, 2018

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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."