Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R1A
Variant:p.P179R
Back to variants list

PPP2R1A

NM_014225.6:p.P179R

Associated Papers

ERBB2 amplification is a late event in the pathogenesis of high-grade endometrial carcinomas with heterogeneous HER2 expression.

Chui MH et al.

The Journal of Pathology, 2026

Lymphoid enhancer-binding factor 1 (LEF1) immunostaining as a surrogate for β-catenin (CTNNB1) mutations.

Hewer E et al.

Journal of Clinical Pathology, 2025

39653501 (PubMed )
Supplement: jcp-79-1-s001.pdf

A Subset of Serous Tubal Intraepithelial Carcinoma (STIC)-Like Lesions and Concurrent High-Grade Endometrial Carcinoma Are Genomically Related Entities.

da Silva EM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Genomic landscape of endometrial polyps.

Reinikka S et al.

Genome Medicine, 2025

41137179 (PubMed )
Supplement: 13073_2025_1556_MOESM1_ESM.xlsx › S2

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

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

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc3.xlsx › All

Clinicopathologic and Genomic Analysis of Uterine Serous Carcinomas Arising From Endometrial Hyperplasia.

Sia TY et al.

The American Journal of Surgical Pathology, 2025

Endometrial carcinomas with ambiguous histology often harbor TP53 mutations.

Davidson B et al.

Virchows Archiv : an International Journal of Pathology, 2025

39235515 (PubMed )
Supplement: 428_2024_3912_MOESM1_ESM.xlsx › Mutation_list

Mutant PP2A Induces IGFBP2 Secretion to Promote Development of High-Grade Uterine Cancer.

Haanen TJ et al.

Cancer Research, 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

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

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

Stan A et al.

Plos One, 2024

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › Sheet1

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

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

Wang Y et al.

Nature Communications, 2023

Monitoring Treatment Response, Early Recurrence, and Survival in Uterine Serous Carcinoma and Carcinosarcoma Patients Using Personalized Circulating Tumor DNA Biomarkers.

Bellone S et al.

International Journal of Molecular Sciences, 2023

ARID1A, NOTCH and WNT Signature in Gynaecological Tumours.

Vaicekauskaitė I et al.

International Journal of Molecular Sciences, 2023

Identification of T Cell Receptors Targeting a Neoantigen Derived from Recurrently Mutated FGFR3.

Tate T et al.

Cancers, 2023

36831375 (PubMed )
Supplement: cancers-15-01031-s001.zip › Supplementary_Table_S1.xlsx › Table_S1

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.

Baker EK et al.

American Journal of Medical Genetics. Part A, 2022

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.

Prieto-Potin I et al.

Diagnostics (basel, Switzerland), 2022

36010253 (PubMed )
Supplement: diagnostics-12-01903-s001.zip › Table_S3._OCA_v3_RAW_DATA.xlsx › GENERAL

Molecular analysis of ascitic fluid cytology reflects genetic changes of malignancies of the ovary equivalent to surgically resected specimens.

Nozaki T et al.

Cancer Cytopathology, 2022

Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.

Villafranca-Magdalena B et al.

International Journal of Molecular Sciences, 2022

35682944 (PubMed )
Supplement: ijms-23-06266-s001.zip › Table_S5.xlsx › Hoja1

Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.

Hong JH et al.

Journal of Gynecologic Oncology, 2022

Investigation of Molecular Features Involved in Clinical Responses and Survival in Advanced Endometrial Carcinoma Treated by Hormone Therapy.

Neron M et al.

Journal of Personalized Medicine, 2022

Targeting Ribonucleotide Reductase Induces Synthetic Lethality in PP2A-Deficient Uterine Serous Carcinoma.

O'Connor CM et al.

Cancer Research, 2022

Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.

Aguilar M et al.

The Journal of Pathology, 2021

33506979 (PubMed )
Supplement: PATH-254-20-s006.zip › path5628-sup-0002-FiguresS1-S2 › path5628-sup-FigureS1.pdf

Comprehensive characterization of protein-protein interactions perturbed by disease mutations.

Cheng F et al.

Nature Genetics, 2021

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

Lenaerts L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.

Zhang Y et al.

Scientific Reports, 2021

33432021 (PubMed )
Supplement: 41598_2020_79694_MOESM2_ESM.xlsx › Sheet1

Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.

Charo LM et al.

Molecular Oncology, 2021

32881280 (PubMed )
Supplement: MOL2-15-67-s001.docx

Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.

Čerina D et al.

Pathology Oncology Research : Por, 2021

34646088 (PubMed )
Supplement: DataSheet2.docx

Utility of Circulating Tumor DNA for Detection and Monitoring of Endometrial Cancer Recurrence and Progression.

Moss EL et al.

Cancers, 2020

32785174 (PubMed )
Supplement: cancers-12-02231-s001.pdf

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

Intratumour heterogeneity in endometrial serous carcinoma assessed by targeted sequencing and multiplex ligation-dependent probe amplification: a descriptive study.

Cuevas D et al.

Histopathology, 2020

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1
1–50 of 101 papers
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."