Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.Y155N
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PTEN

NM_000314.8:p.Y155N

Associated Papers

Mapping cryptic phosphorylation sites in the human proteome.

Gasparotto D et al.

The Embo Journal, 2025

41044218 (PubMed )
Supplement: 44318_2025_567_MOESM5_ESM.xlsx › Table

First Screening For Germline Variations In Exon 5 PTEN Gene and Their Contribution to Triple Negative Breast Cancer in Eastern Algeria.

Haddad S et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2025

Dominant Negative PTEN Alterations in Endometrial Carcinoma Are Associated With Retained Immunohistochemical PTEN Expression.

Keyhanian K et al.

The American Journal of Surgical Pathology, 2025

Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome.

Zabeida A et al.

Pediatric Blood & Cancer, 2024

Comparison of immunohistochemistry and next-generation sequencing results in oncogenic PTEN missense mutations.

Kim M et al.

Pathology, Research and Practice, 2023

Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants.

Desjardins C et al.

Journal of Medical Genetics, 2023

Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.

Serebriiskii IG et al.

Nature Communications, 2022

35338148 (PubMed )
Supplement: 41467_2022_29227_MOESM6_ESM.xlsx › Supplemenraty_Data_3

Distinguishing between PTEN clinical phenotypes through mutation analysis.

Portelli S et al.

Computational and Structural Biotechnology Journal, 2021

34141133 (PubMed )
Supplement: mmc1.docx

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

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Post KL et al.

Nature Communications, 2020

Considerations for total thyroidectomy in an adolescent with PTEN mutation.

Tosur M et al.

Therapeutic Advances in Endocrinology and Metabolism, 2018

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Chen HJ et al.

Human Mutation, 2017

28677221 (PubMed )
Supplement: HUMU-38-1372-s001.pdf

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Spinelli L et al.

Journal of Medical Genetics, 2015

25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf

Frequent loss of PTEN expression is linked to elevated phosphorylated Akt levels, but not associated with p27 and cyclin D1 expression, in primary epithelial ovarian carcinomas.

Kurose K et al.

The American Journal of Pathology, 2001

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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."