Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.K469E
Back to variants list

PPM1D

NM_003620.4:p.K469E

Associated Papers

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

Yedla P et al.

Cell Biochemistry and Function, 2024

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S6.xlsx › High_Confidence_SNVs

Indeterminate Thyroid Fine-Needle Aspirations in Pediatrics: Exploring Clinicopathologic Features and Utility of Molecular Profiling.

Baran JA et al.

Hormone Research in Paediatrics, 2022

A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Ticha I et al.

Scientific Reports, 2019

31745173 (PubMed )
Supplement: 41598_2019_53636_MOESM2_ESM.xlsx › benign___likely_benign

Genetic Landscape of Somatic Mutations in a Large Cohort of Sporadic Medullary Thyroid Carcinomas Studied by Next-Generation Targeted Sequencing.

Ciampi R et al.

Iscience, 2019

Truncating and missense PPM1D mutations in early-onset and/or familial/hereditary prostate cancer patients.

Cardoso M et al.

Genes, Chromosomes & Cancer, 2016

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

Zajkowicz A et al.

British Journal of Cancer, 2015

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

Kleiblova P et al.

The Journal of Cell Biology, 2013

23649806 (PubMed )
Supplement: supp_jcb.201210031_JCB_201210031_sm.pdf
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."