Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.S446*
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PPM1D

NM_003620.4:p.S446*

Associated Papers

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

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

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

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

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_4_TS_SNV

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

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

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4

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

Sarcomatoid Yolk Sac Tumor Harbors Somatic Mutations That Are Otherwise Rare in Testicular Germ Cell Tumors.

Acosta AM et al.

The American Journal of Surgical Pathology, 2022

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

Khadka P et al.

Nature Communications, 2022

Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.

Yan T et al.

Nature Communications, 2019

30975989 (PubMed )
Supplement: 41467_2019_9255_MOESM4_ESM.xlsx › Supplementary_Data_2a

PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.

Pharoah PDP et al.

Journal of the National Cancer Institute, 2016

The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q).

McNerney ME et al.

British Journal of Haematology, 2014

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."