Varaico: Literature-Extracted Genetic Variants

Gene:WWP1
Variant:p.K740N
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WWP1

NM_007013.4:p.K740N

Associated Papers

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome.

Gonzalez-Abuin N et al.

Genes & Diseases, 2024

Post-Translational Modification of PTEN Protein: Quantity and Activity.

Li X et al.

Oncology Reviews, 2024

The HECT family of E3 ubiquitin ligases and PTEN.

Song MS et al.

Seminars in Cancer Biology, 2022

Letter to the Editor: Prevalence of WWP1 Gene Mutations in Patients with Thyroid Nodules.

Condello V et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

The emerging role of WWP1 in cancer development and progression.

Hu X et al.

Cell Death Discovery, 2021

Inhibition of HECT E3 ligases as potential therapy for COVID-19.

Novelli G et al.

Cell Death & Disease, 2021

Ubiquitin Ligase Activities of WWP1 Germline Variants K740N and N745S.

Jiang H et al.

Biochemistry, 2021

WW Domain-Containing E3 Ubiquitin Protein Ligase 1: A Self-Disciplined Oncoprotein.

Kuang L et al.

Frontiers in Cell and Developmental Biology, 2021

WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition.

Lee YR et al.

The New England Journal of Medicine, 2020

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT et al.

Human Molecular Genetics, 2015

25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
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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."