Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.P283L
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PTEN

NM_000314.8:p.P283L

Associated Papers

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

Torices L et al.

Plos One, 2023

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

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Kanavy DM et al.

Genome Medicine, 2019

31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S12_RASopathy_A

Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

Siroy AE et al.

The Journal of Investigative Dermatology, 2015

25148578 (PubMed )
Supplement: NIHMS622327-supplement-supplement_1.pdf
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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."