Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.N512fs
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PPM1D

NM_003620.4:p.N512fs

Associated Papers

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S3

The somatic mutation landscape of normal gastric epithelium.

Coorens THH et al.

Nature, 2025

40108450 (PubMed )
Supplement: 41586_2025_8708_MOESM1_ESM.xlsx › Supplementary_Table_6_-_Drivers

Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.

Cunningham JL et al.

Developmental Neuroscience, 2025

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

Low-Frequency PPM1D Gene Mutations Affect Treatment Response to CD19-Targeted CAR T-Cell Therapy in Large B-Cell Lymphoma.

Seipel K et al.

Current Oncology (toronto, Ont.), 2023

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

PPM1D in Solid and Hematologic Malignancies: Friend and Foe?

Zhang L et al.

Molecular Cancer Research : Mcr, 2022

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

Khadka P et al.

Nature Communications, 2022

Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway.

Zhang X et al.

Cancer Cell International, 2022

35081975 (PubMed )
Supplement: 12935_2022_2451_MOESM1_ESM.xlsx › Table_S3

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

Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon.

Burocziova M et al.

Cell Death & Disease, 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 Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.

Pharoah PDP et al.

Journal of the National Cancer Institute, 2016

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