Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.R458*
Back to variants list

PPM1D

NM_003620.4:p.R458*

Associated Papers

Dynamics of clonal hematopoiesis and cellular responses to stress-induced toxicity in autologous stem cell transplantation.

Stein CM et al.

Leukemia, 2026

41419602 (PubMed )
Supplement: 41375_2025_2823_MOESM2_ESM.xlsx › putative_variants

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

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

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

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Thauvin-Robinet C et al.

Prenatal Diagnosis, 2024

SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells.

Zhang L et al.

Elife, 2024

Working title: Molecular involvement of p53-MDM2 interactome in gastrointestinal cancers.

Yedla P et al.

Cell Biochemistry and Function, 2024

Clonal evolution of hematopoietic stem cells after cancer chemotherapy.

Uryu H et al.

Biorxiv : the Preprint Server for Biology, 2024

SOD1 is a synthetic lethal target in PPM1D-mutant leukemia cells.

Zhang L et al.

Biorxiv : the Preprint Server for Biology, 2024

PPM1D activity promotes the replication stress caused by cyclin E1 overexpression.

Martinikova AS et al.

Molecular Oncology, 2024

The highs and lows of cyclic thrombocytopenia.

Zhang H et al.

British Journal of Haematology, 2024

Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.

von Scheidt M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37546840 (PubMed )
Supplement: media-1.pdf

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

Mutational Landscape of Normal Human Skin: Clues to Understanding Early-Stage Carcinogenesis in Keratinocyte Neoplasia.

Kim YS et al.

The Journal of Investigative Dermatology, 2023

A Case Study on PPM1D and 9 Other Shared Germline Alterations in a Family.

Biswas S et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

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

Zhang H et al.

Blood Advances, 2023

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Tran Mau-Them F et al.

Frontiers in Genetics, 2023

Decoding molecular programs in melanoma brain metastases.

Radke J et al.

Nature Communications, 2022

36435874 (PubMed )
Supplement: 41467_2022_34899_MOESM9_ESM.xlsx › Identif.Mutations

PPM1D in Solid and Hematologic Malignancies: Friend and Foe?

Zhang L et al.

Molecular Cancer Research : Mcr, 2022

Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Liu B et al.

Cancer Medicine, 2022

35393784 (PubMed )
Supplement: CAM4-11-2767-s001.xlsx › Table_S2

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM11_ESM.xlsx › historical_growth

Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.

Ramberg I et al.

Investigative Ophthalmology & Visual Science, 2021

34779821 (PubMed )
Supplement: iovs-62-14-11_s001.pdf

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

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K et al.

Cancers, 2020

32295079 (PubMed )
Supplement: cancers-12-00956-s001.pdf

Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Yi Z et al.

Npj Breast Cancer, 2020

33145402 (PubMed )
Supplement: 41523_2020_201_MOESM2_ESM.xlsx › Supplementary_Table_1

PPM1D Mutations Drive Clonal Hematopoiesis in Response to Cytotoxic Chemotherapy.

Hsu JI et al.

Cell Stem Cell, 2018

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

Short Call Abstracts.

Unknown Author

Thyroid : Official Journal of the American Thyroid Association, 2017

Chemical Inhibition of Wild-Type p53-Induced Phosphatase 1 (WIP1/PPM1D) by GSK2830371 Potentiates the Sensitivity to MDM2 Inhibitors in a p53-Dependent Manner.

Esfandiari A et al.

Molecular Cancer Therapeutics, 2016

Truncating mutations of PPM1D are found in blood DNA samples of lung cancer patients.

Zajkowicz A et al.

British Journal of Cancer, 2015

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

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

Kleiblova P et al.

The Journal of Cell Biology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."