Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.C124S
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PTEN

NM_000314.8:p.C124S

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

PTEN Loss Promotes PI3Kβ Phosphorylation and EPHA2/SRC/p-PI3KβY962 Complex Assembly to Drive Tumorigenesis.

Tang S et al.

Cancer Discovery, 2025

PTEN defects in cancer, from gene to protein molecular causes and therapeutic targets.

Khasarah G et al.

Discover Oncology, 2025

PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context.

Zhong G et al.

Nature Communications, 2025

PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.

Janku F et al.

Jco Precision Oncology, 2025

40865033 (PubMed )
Supplement: protocol1_PO-25-00265.pdf

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Retrospective comparison between breast cancer tissue- and blood-based next-generation sequencing results in detection of PIK3CA, AKT1, and PTEN alterations.

Chaki M et al.

Breast Cancer Research : Bcr, 2025

40597213 (PubMed )
Supplement: 13058_2025_2055_MOESM1_ESM.pdf

PTEN protein phosphatase activity regulates metastasis by targeting PKCδ.

Yu Y et al.

Iscience, 2025

Genetically encoded biosensor for fluorescence lifetime imaging of PTEN dynamics in the intact brain.

Kagan T et al.

Nature Methods, 2025

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.

Torrens L et al.

Nature Genetics, 2025

40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15

The Histomorphology to Molecular Transition: Exploring the Genomic Landscape of Poorly Differentiated Epithelial Endometrial Cancers.

Molefi T et al.

Cells, 2025

PTEN controls alternative splicing of autism spectrum disorder-associated transcripts in primary neurons.

Rademacher S et al.

Brain : a Journal of Neurology, 2025

Clinicopathogenomic analysis of PI3K/AKT/PTEN-altered luminal metastatic breast cancer in Japan.

Tada H et al.

Breast Cancer (tokyo, Japan), 2025

Pleiotropic tumor suppressive functions of PTEN missense mutations during gliomagenesis.

Jun HJ et al.

Iscience, 2024

Secreted PTEN binds PLXDC2 on macrophages to drive antitumor immunity and tumor suppression.

Zhang C et al.

Developmental Cell, 2024

NHEJ is promoted by the phosphorylation and phosphatase activity of PTEN via regulation of DNA-PKcs.

Chowdhury SG et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2024

Decoding PTEN: from biological functions to signaling pathways in tumors.

Huang X et al.

Molecular Biology Reports, 2024

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Schmidt A et al.

Nature Genetics, 2024

39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1

PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context.

Zhong G et al.

Biorxiv : the Preprint Server for Biology, 2024

Molecular underpinnings of dedifferentiation and aggressiveness in chromophobe renal cell carcinoma.

Kapur P et al.

Jci Insight, 2024

38775158 (PubMed )
Supplement: jciinsight-9-176743-s288.xlsx › Table_S5

PTEN-mediated dephosphorylation of 53BP1 confers cellular resistance to DNA damage in cancer cells.

He J et al.

Molecular Oncology, 2024

PTEN Lipid Phosphatase Activity Suppresses Melanoma Formation by Opposing an AKT/mTOR/FRA1 Signaling Axis.

Xu X et al.

Cancer Research, 2024

Sumoylation and phosphorylation of PTEN boosts and curtails autophagy respectively by influencing cell membrane localisation.

De D et al.

Experimental Cell Research, 2024

Proteomic and yeast 2-hybrid screens to identify PTEN binding partners.

Tibarewal P et al.

Advances in Biological Regulation, 2024

Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome.

Yavuz BR et al.

Npj Genomic Medicine, 2023

Cholesterol biogenesis is a PTEN-dependent actionable node for the treatment of endocrine therapy-refractory cancers.

Kaysudu I et al.

Cancer Science, 2023

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

Kim M et al.

Pathology, Research and Practice, 2023

Classification of PTEN missense VUS through exascale simulations.

Sinha S et al.

Briefings in Bioinformatics, 2023

Reciprocal negative feedback regulation of ATF6α and PTEN promotes prostate cancer progression.

Feng T et al.

Cellular and Molecular Life Sciences : Cmls, 2023

PTEN is both an activator and a substrate of chaperone-mediated autophagy.

Zhang KK et al.

The Journal of Cell Biology, 2023

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6

The mechanisms of class 1A PI3K and Wnt/β-catenin coupled signaling in breast cancer.

Rodgers SJ et al.

Biochemical Society Transactions, 2023

PTEN deficiency facilitates gemcitabine efficacy in cancer by modulating the phosphorylation of PP2Ac and DCK.

Jiang TY et al.

Science Translational Medicine, 2023

Hyperphosphorylated PTEN exerts oncogenic properties.

van Ree JH et al.

Nature Communications, 2023

Functional analysis of PTEN variants of unknown significance from PHTS patients unveils complex patterns of PTEN biological activity in disease.

Torices L et al.

European Journal of Human Genetics : Ejhg, 2023

Pten, Pi3K and PtdIns(3,4,5)P 3 dynamics modulate pulsatile actin branching in Drosophila retina morphogenesis.

Malin J et al.

Biorxiv : the Preprint Server for Biology, 2023

Phospho PTEN mediated dephosphorylation of mitotic kinase PLK1 and Aurora Kinase A prevents aneuploidy and preserves genomic stability.

Ghosh G et al.

Medical Oncology (northwood, London, England), 2023

PTEN Deficiency Facilitates Exosome Secretion and Metastasis in Cholangiocarcinoma by Impairing TFEB-mediated Lysosome Biogenesis.

Jiang TY et al.

Gastroenterology, 2023

PTEN phosphatase inhibits metastasis by negatively regulating the Entpd5/IGF1R pathway through ATF6.

Yu Y et al.

Iscience, 2023

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

Langdon CG

Biomolecules, 2023

Molecular dynamic simulation and functional analysis of pathogenic PTEN mutations in glioblastoma.

Cetintas VB et al.

Journal of Biomolecular Structure & Dynamics, 2023

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant
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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."