Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.R552*
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PPM1D

NM_003620.4:p.R552*

Associated Papers

A framework for the molecular identification of CHIP for clinical research.

Harraka P et al.

Hgg Advances, 2026

Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.

Regan JA et al.

Plos One, 2026

41666166 (PubMed )
Supplement: pone.0339491.s009.xlsx › S4_Table

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

41332868 (PubMed )
Supplement: media-6.xlsx › Sheet1

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

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

From diagnostic uncertainty to targeted therapy: a case-based review of VEXAS syndrome.

Rana G et al.

Rheumatology International, 2025

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

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP.

Tian S et al.

Genomics, Proteomics & Bioinformatics, 2025

40300108 (PubMed )
Supplement: qzaf040_supplementary_data.zip › Table_S6.xlsx › Sheet1

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

Schepisi G et al.

Esmo Open, 2025

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

MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.

Friker LL et al.

Acta Neuropathologica, 2025

39894875 (PubMed )
Supplement: 401_2025_2846_MOESM1_ESM.xlsx › Sheet1

Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.

Regan JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39867361 (PubMed )
Supplement: media-1.xlsx › Supplemental_Table_4

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

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM3_ESM.xlsx › Supplementary_Table_2

Influence of the Bone Marrow Microenvironment on Hematopoietic Stem Cell Behavior Post-Allogeneic Transplantation: Development of Clonal Hematopoiesis and Telomere Dynamics.

Kim M et al.

International Journal of Molecular Sciences, 2024

39408588 (PubMed )
Supplement: ijms-25-10258-s001.zip › Table_S1.pdf

Selective advantage of mutant stem cells in human clonal hematopoiesis is associated with attenuated response to inflammation and aging.

Jakobsen NA et al.

Cell Stem Cell, 2024

38917807 (PubMed )
Supplement: mmc3.xlsx › Table_S2b

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

Clonal evolution of hematopoietic stem cells after cancer chemotherapy.

Uryu H et al.

Biorxiv : the Preprint Server for Biology, 2024

VEXAS syndrome: A review of cutaneous findings and treatments in an emerging autoinflammatory disease.

Saad AJ et al.

Experimental Dermatology, 2024

Clonal selection of hematopoietic stem cells after gene therapy for sickle cell disease.

Spencer Chapman M et al.

Nature Medicine, 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_S2

COMPASS: joint copy number and mutation phylogeny reconstruction from amplicon single-cell sequencing data.

Sollier E et al.

Nature Communications, 2023

37582954 (PubMed )
Supplement: 41467_2023_40378_MOESM1_ESM.pdf

Clonal hematopoiesis in older patients with breast cancer receiving chemotherapy.

Mayerhofer C et al.

Journal of the National Cancer Institute, 2023

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-mmc1.pdf

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

Increased clonal hematopoiesis involving DNA damage response genes in patients undergoing lung transplantation.

Tague LK et al.

Jci Insight, 2023

36853803 (PubMed )
Supplement: jciinsight-8-165609-s144.pdf

Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.

Gurioli G et al.

International Journal of Molecular Sciences, 2022

36555431 (PubMed )
Supplement: ijms-23-15789-s001.zip › ijms-2007273-SI.pdf

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.

Brunet T et al.

Human Molecular Genetics, 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

Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.

Uddin MM et al.

Immunity & Ageing : I & A, 2022

35610705 (PubMed )
Supplement: 12979_2022_278_MOESM2_ESM.xlsx › Table_S2

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

Svensson EC et al.

Jama Cardiology, 2022

Mutant PPM1D- and TP53-Driven Hematopoiesis Populates the Hematopoietic Compartment in Response to Peptide Receptor Radionuclide Therapy.

Singh A et al.

Jco Precision Oncology, 2022

Atypical splice-site mutations causing VEXAS syndrome.

Templé M et al.

Rheumatology (oxford, England), 2021

Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Wright CF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable2_NotReported

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

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › All_Calls
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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."