Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.E540*
Back to variants list

PPM1D

NM_003620.4:p.E540*

Associated Papers

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

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

Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms.

Sperling AS et al.

Blood, 2022

35512188 (PubMed )
Supplement: BLOOD_BLD-2021-014956-mmc1.pdf

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

Khadka P et al.

Nature Communications, 2022

35105861 (PubMed )
Supplement: 41467_2022_28198_MOESM5_ESM.xls › Sheet1

Targeting Mutant PPM1D Sensitizes Diffuse Intrinsic Pontine Glioma Cells to the PARP Inhibitor Olaparib.

Wang Z et al.

Molecular Cancer Research : Mcr, 2020

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

Fons NR et al.

Nature Communications, 2019

Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.

Weber-Lassalle K et al.

Human Mutation, 2018

PPM1D Mutations Drive Clonal Hematopoiesis in Response to Cytotoxic Chemotherapy.

Hsu JI et al.

Cell Stem Cell, 2018

30388424 (PubMed )
Supplement: mmc2.pdf

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

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."