Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.G129E
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PTEN

NM_000314.8:p.G129E

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

Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level.

Da Cruz Paula A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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

PTEN protein phosphatase activity regulates metastasis by targeting PKCδ.

Yu Y et al.

Iscience, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

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

Molefi T et al.

Cells, 2025

Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review.

Li Q et al.

Pediatric Neurology, 2025

Pembrolizumab efficacy in a tumor mutation burden-high glioblastoma patient: A case study and implications for precision oncology.

Nishiyama A et al.

Cancer Science, 2025

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

Tada H et al.

Breast Cancer (tokyo, Japan), 2025

Comprehensive computational analysis of deleterious nsSNPs in PTEN gene for structural and functional insights.

Sharma D et al.

Molecular Biology Research Communications, 2025

Heterozygous Mutations of PTEN in Macrocephaly Patient With Epilepsy: A Case Report.

Wang L et al.

Case Reports in Medicine, 2025

Pleiotropic tumor suppressive functions of PTEN missense mutations during gliomagenesis.

Jun HJ et al.

Iscience, 2024

The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).

Zhang L et al.

Elife, 2024

39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad

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

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

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3B_EC_data

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

Tibarewal P et al.

Advances in Biological Regulation, 2024

Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center.

Tögel L et al.

Cancers, 2023

38136436 (PubMed )
Supplement: cancers-15-05892-s001.zip › Supplementary_Tables.xlsx › Table_S2

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

Kaysudu I et al.

Cancer Science, 2023

Metastatic prostate cancer is associated with distinct higher frequency of genetic mutations at diagnosis.

Al-Toubat M et al.

Urologic Oncology, 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

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

Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.

Hopkins CE et al.

Molecular Aspects of Medicine, 2023

Hyperphosphorylated PTEN exerts oncogenic properties.

van Ree JH et al.

Nature Communications, 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

Genetic Characterization of Ovarian Tumor Tissues from Patients with Epithelial Ovarian Cancer in a Philippine Tertiary Hospital: A Descriptive Study.

Lintao RCV et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

Pharmacogenomic profiling reveals molecular features of chemotherapy resistance in IDH wild-type primary glioblastoma.

Nam Y et al.

Genome Medicine, 2023

36915208 (PubMed )
Supplement: 13073_2023_1165_MOESM1_ESM.xlsx › Table_S2

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

Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.

Sheng Z et al.

Frontiers in Oncology, 2023

37920153 (PubMed )
Supplement: Table_1.xlsx › Table_S4.__Targetable_variants

Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.

Carrasco R et al.

Frontiers in Oncology, 2023

38098507 (PubMed )
Supplement: DataSheet_3.xlsx › Pt_1

PTEN Protein Phosphatase Activity Is Not Required for Tumour Suppression in the Mouse Prostate.

Wise HM et al.

Biomolecules, 2022

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