Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.L484*
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PPM1D

NM_003620.4:p.L484*

Associated Papers

Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.

Eldomery MK et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral

Clonal Evolution of PPM1D Mutations in the Spectrum of Myeloid Disorders.

Fandrei D et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Olaparib as a rescue treatment in platinum-refractory germ-cell tumors: the IGG-02 phase II trial.

Schepisi G et al.

Esmo Open, 2025

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_5_suppst5.xlsx › Sheet1

PPM1D Mutation as a Distinct Feature of Myeloid Neoplasms in B-Cell Non-Hodgkin Lymphoma Patients: A Retrospective Analysis.

Kim H et al.

Cancers, 2025

40227763 (PubMed )
Supplement: cancers-17-01185-s001.zip › Supplementary_Table_S2_BNHL.xlsx › Sheet1

Case Report: Novel truncating PPM1D variant in a dichorionic diamniotic (DCDA) twin with Jansen-de Vries syndrome. an updated perspective.

Merida De la Torre FJ et al.

Frontiers in Genetics, 2025

40630121 (PubMed )
Supplement: Table1.xlsx › Table_S1

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_primary_tumor

TP53 mutations in myeloid neoplasms: implications for accurate laboratory detection, diagnosis, and treatment.

Zhang L et al.

Laboratory Medicine, 2024

Dynamics of clonal hematopoiesis under DNA-damaging treatment in patients with ovarian cancer.

Arends CM et al.

Leukemia, 2024

38637689 (PubMed )
Supplement: 41375_2024_2253_MOESM2_ESM.xlsx › SomaticMutations_d1

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM10_ESM.xlsx › S10

The highs and lows of cyclic thrombocytopenia.

Zhang H et al.

British Journal of Haematology, 2024

Clonal hematopoiesis with DNMT3A and PPM1D mutations impairs regeneration in autologous stem cell transplant recipients.

Stelmach P et al.

Haematologica, 2023

37381752 (PubMed )
Supplement: 2023_282992_STELMACH_SUPPL.pdf

Molecular and clonal evolution in vivo reveal a common pathway of distant relapse gliomas.

Liu G et al.

Iscience, 2023

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.

Uddin MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732181 (PubMed )
Supplement: media-2.xlsx › Table_S3

Clonal hematopoiesis in older patients with breast cancer receiving chemotherapy.

Mayerhofer C et al.

Journal of the National Cancer Institute, 2023

Longitudinal study of 2 patients with cyclic thrombocytopenia, STAT3 and MPL mutations.

Zhang H et al.

Blood Advances, 2023

Next-generation sequencing of cerebrospinal fluid for clinical molecular diagnostics in pediatric, adolescent and young adult brain tumor patients.

Miller AM et al.

Neuro-oncology, 2022

TET2-Driven Clonal Hematopoiesis and Response to Canakinumab: An Exploratory Analysis of the CANTOS Randomized Clinical Trial.

Svensson EC et al.

Jama Cardiology, 2022

PPM1D mutations are oncogenic drivers of de novo diffuse midline glioma formation.

Khadka P et al.

Nature Communications, 2022

Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Kiefer KC et al.

Esc Heart Failure, 2021

33779075 (PubMed )
Supplement: EHF2-8-1873-s002.xlsx › Sheet1

Protein phosphatase, Mg2+/Mn2+-dependent 1D (PPM1D) mutations in haematological cancer.

Husby S et al.

British Journal of Haematology, 2021

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Bick AG et al.

Nature, 2020

33057201 (PubMed )
Supplement: NIHMS1609346-supplement-1609346_SuppTables.xlsx › S3

Single-cell analysis based dissection of clonality in myelofibrosis.

Mylonas E et al.

Nature Communications, 2020

31911629 (PubMed )
Supplement: 41467_2019_13892_MOESM4_ESM.xlsx › MPN04

PPM1D mutations silence NAPRT gene expression and confer NAMPT inhibitor sensitivity in glioma.

Fons NR et al.

Nature Communications, 2019

Recurrent genetic HLA loss in AML relapsed after matched unrelated allogeneic hematopoietic cell transplantation.

Jan M et al.

Blood Advances, 2019

31324640 (PubMed )
Supplement: baadv2019000445-suppl6.xlsx › Recurrent_Mutations_in_MN

Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Wong TN et al.

Nature Communications, 2018

29386642 (PubMed )
Supplement: 41467_2018_2858_MOESM5_ESM.xlsx › Sheet1

Inhibition of C-terminal truncated PPM1D enhances the effect of doxorubicin on cell viability in human colorectal carcinoma cell line.

Kozakai Y et al.

Bioorganic & Medicinal Chemistry Letters, 2014

Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas.

Zhang L et al.

Nature Genetics, 2014

Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint.

Kleiblova P et al.

The Journal of Cell Biology, 2013

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.

Ruark E et al.

Nature, 2013

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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."