Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R1A
Variant:p.R183W
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PPP2R1A

NM_014225.6:p.R183W

Associated Papers

Systematic evaluation of neoepitope predictions challenges clinically observed T-cell responses and their impact on immune evasion.

Zaghla BKQ et al.

Journal for Immunotherapy of Cancer, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Clinical and Molecular Spectrum of PPP2R1A-Related Neurodevelopmental Disorders: A Systematic Review.

Lee J et al.

Genes, 2025

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

Houge-Janssens syndrome.

Houge GD et al.

European Journal of Human Genetics : Ejhg, 2025

PPP2R1A mutation status as a predictive and prognostic factor in molecularly characterized endometrial carcinoma: a cohort study.

Khatun M et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2025

MutationAssessor in cBioPortal.

Su Y et al.

Biorxiv : the Preprint Server for Biology, 2025

40832239 (PubMed )
Supplement: media-1.pdf

PPP2R1A mutations portend improved survival after cancer immunotherapy.

Dai Y et al.

Nature, 2025

The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A.

Hamill C et al.

Prenatal Diagnosis, 2025

Prenatal Characterization of Houge-Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations.

Hu J et al.

Molecular Genetics & Genomic Medicine, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer.

Ng JK et al.

Cell Genomics, 2025

40073865 (PubMed )
Supplement: mmc37.pdf

PPP2R1A mutations cause ATR inhibitor sensitivity in ovarian clear cell carcinoma.

Stewart J et al.

Oncogene, 2025

Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy.

Huang J et al.

Frontiers in Immunology, 2025

39931062 (PubMed )
Supplement: Table1.xlsx › Sheet1

The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).

Zhang L et al.

Elife, 2024

39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad

Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.

Ji W et al.

Clinical Genetics, 2024

Molecular profiling reveals novel therapeutic targets and clonal evolution in ovarian clear cell carcinoma.

Chao A et al.

Bmc Cancer, 2024

Colorectal cancer with a germline BRCA1 variant inherited paternally: a case report.

Kim KM et al.

Journal of Pathology and Translational Medicine, 2024

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1B_Cases_composite_mutations

The PPP2R1A cancer hotspot mutant p.R183W increases clofarabine resistance in uterine serous carcinoma cells by a gain-of-function mechanism.

Remmerie M et al.

Cellular Oncology (dordrecht, Netherlands), 2024

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2

Comprehensive Cancer Genomic Profiling of Liver Metastasis Led to the Unexpected Identification of Colorectal Cancer.

Miyamoto H et al.

Internal Medicine (tokyo, Japan), 2024

Detection of driver mutations and genomic signatures in endometrial cancers using artificial intelligence algorithms.

Stan A et al.

Plos One, 2024

Case report: A germline CHEK1 c.613 + 2T>C leads to a splicing error in a family with multiple cancer patients.

Qian J et al.

Frontiers in Oncology, 2024

Improvement of variant reclassification in genetic neurodevelopmental conditions.

Kowanda M et al.

Genetics in Medicine Open, 2024

39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.

Hadad S et al.

Acta Neuropathologica, 2023

38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3

Genomic profiling of ovarian clear cell carcinoma in Chinese patients reveals potential prognostic biomarkers for survival.

Ye S et al.

Annals of Medicine, 2023

37272300 (PubMed )
Supplement: IANN_A_2218104_SM2772.xlsx › mutation

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.

Roldán M et al.

International Journal of Molecular Sciences, 2023

37762002 (PubMed )
Supplement: ijms-24-13699-s001.zip › ijms-2543317-supplementary.pdf

Novel Variants of PPP2R1A in Catalytic Subunit Binding Domain and Genotype-Phenotype Analysis in Neurodevelopmentally Delayed Patients.

Qian Y et al.

Genes, 2023

PPP2R1A regulates migration persistence through the NHSL1-containing WAVE Shell Complex.

Wang Y et al.

Nature Communications, 2023

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1

Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature.

Lei T et al.

Genes, 2023

Case Report: The first report of PPP2R1A mutations in mesonephric-like adenocarcinoma of endometrial carcinoma.

Cai L et al.

Frontiers in Oncology, 2023

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.

Baker EK et al.

American Journal of Medical Genetics. Part A, 2022

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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."