Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.D1399Y
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EP300

NM_001429.4:p.D1399Y

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.

Regan JA et al.

Plos One, 2026

41666166 (PubMed )
Supplement: pone.0339491.s009.xlsx › S2_Table

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.

Lv C et al.

Nature Aging, 2025

41286462 (PubMed )
Supplement: 43587_2025_1017_MOESM4_ESM.xlsx › Sheet1

IRF3-p300 axis controls global acetylation and mitotic progression.

Kim WJ et al.

Biochemical and Biophysical Research Communications, 2025

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 › S2

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST_4

Nuclear GTPSCS functions as a lactyl-CoA synthetase to promote histone lactylation and gliomagenesis.

Liu R et al.

Cell Metabolism, 2025

Dysregulation of the p300/CBP histone acetyltransferases in human cancer.

Xu L et al.

Epigenomics, 2025

Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.

Regan JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39867361 (PubMed )
Supplement: media-1.xlsx › Supplemental_Table_2

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

Cytotoxicity of Activator Expression in CRISPR-based Transcriptional Activation Systems.

Maddineni A et al.

Biorxiv : the Preprint Server for Biology, 2024

Tailoring a CRISPR/Cas-based Epigenome Editor for Programmable Chromatin Acylation and Decreased Cytotoxicity.

Goell J et al.

Biorxiv : the Preprint Server for Biology, 2024

MED1 IDR acetylation reorganizes the transcription preinitiation complex, rewires 3D chromatin interactions and reprograms gene expression.

Lin R et al.

Biorxiv : the Preprint Server for Biology, 2024

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.

Sosinsky A et al.

Nature Medicine, 2024

38200255 (PubMed )
Supplement: 41591_2023_2682_MOESM3_ESM.xlsx › Table_S1

CRISPR/dCas9 Tools: Epigenetic Mechanism and Application in Gene Transcriptional Regulation.

Cai R et al.

International Journal of Molecular Sciences, 2023

Rare variant associations with plasma protein levels in the UK Biobank.

Dhindsa RS et al.

Nature, 2023

37794183 (PubMed )
Supplement: 41586_2023_6547_MOESM4_ESM.zip › 2022-09-14560C-s4 › 2022-09-14560C-Supp_table_20_-_CH_qualifying_variant_list.xlsx › CH_qualifying_variants

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.

Yu Z et al.

The Journal of Clinical Investigation, 2023

37498674 (PubMed )
Supplement: jci-133-168597-s140.pdf

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.

Uddin MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732181 (PubMed )
Supplement: media-2.xlsx › Table_S3

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Chromatin regulation of transcriptional enhancers and cell fate by the Sotos syndrome gene NSD1.

Sun Z et al.

Molecular Cell, 2023

Clonal hematopoiesis is associated with protection from Alzheimer's disease.

Bouzid H et al.

Nature Medicine, 2023

37322115 (PubMed )
Supplement: 41591_2023_2397_MOESM3_ESM.xlsx › Supplementary_Table_1

Experimental analysis of bladder cancer-associated mutations in EP300 identifies EP300-R1627W as a driver mutation.

Luo M et al.

Molecular Medicine (cambridge, Mass.), 2023

Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Crouch S et al.

Blood Advances, 2022

35363872 (PubMed )
Supplement: BLOODA_ADV-2021-005284-mmc1.xlsx › S2_DLBCL_SNV

Cancer-driving mutations are enriched in genic regions intolerant to germline variation.

Vitsios D et al.

Science Advances, 2022

36026442 (PubMed )
Supplement: sciadv.abo6371_tables_s1_to_s13.zip › sciadv.abo6371_tables_s1_to_s13.xlsx › S1

Diagnostic value of a comprehensive, urothelial carcinoma-specific next-generation sequencing panel in urine cytology and bladder tumor specimens.

Sun T et al.

Cancer Cytopathology, 2021

Acetylation of ELF5 suppresses breast cancer progression by promoting its degradation and targeting CCND1.

Li X et al.

Npj Precision Oncology, 2021

Enhancer-associated aortic valve stenosis risk locus 1p21.2 alters NFATC2 binding site and promotes fibrogenesis.

Chignon A et al.

Iscience, 2021

Mutation patterns in recurrent and/or metastatic oropharyngeal squamous cell carcinomas in relation to human papillomavirus status.

Reder H et al.

Cancer Medicine, 2021

33527763 (PubMed )
Supplement: CAM4-10-1347-s006.pdf

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_3.XLSX › Sheet1

Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study.

Li DY et al.

Frontiers in Oncology, 2021

34055593 (PubMed )
Supplement: Table_1.xlsx › genomic_alterations_information

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Bick AG et al.

Nature, 2020

33057201 (PubMed )
Supplement: NIHMS1609346-supplement-1609346_SuppTables.xlsx › S2

The acetyltransferase p300 regulates NRF2 stability and localization.

Ganner A et al.

Biochemical and Biophysical Research Communications, 2020

Immunogenicity and Immune Silence in Human Cancer.

Yarmarkovich M et al.

Frontiers in Immunology, 2020

32256484 (PubMed )
Supplement: Table_4.XLSX › TCGA_HLAs_and_mutations

Regulation of alternative splicing by p300-mediated acetylation of splicing factors.

Siam A et al.

Rna (new York, N.y.), 2019

Inactivation of nuclear histone deacetylases by EP300 disrupts the MiCEE complex in idiopathic pulmonary fibrosis.

Rubio K et al.

Nature Communications, 2019

DNA polymerase ι is acetylated in response to SN2 alkylating agents.

McIntyre J et al.

Scientific Reports, 2019

Genomic characterization of genes encoding histone acetylation modulator proteins identifies therapeutic targets for cancer treatment.

Hu Z et al.

Nature Communications, 2019

30760718 (PubMed )
Supplement: 41467_2019_8554_MOESM19_ESM.xlsx › Supplementary_Table_17

CREBBP gene mutations are frequently detected in in situ follicular neoplasia.

Schmidt J et al.

Blood, 2018

Histone Deacetylase SIRT1 Targets Plk2 to Regulate Centriole Duplication.

Ling H et al.

Cell Reports, 2018

[Clinical manifestations of erythrocyte membrane protein coding gene mutations in hereditary spherocytosis].

Sun XJ et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018

Transcription factor dimerization activates the p300 acetyltransferase.

Ortega E et al.

Nature, 2018

p300-Mediated Lysine 2-Hydroxyisobutyrylation Regulates Glycolysis.

Huang H et al.

Molecular Cell, 2018

Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.

Salloum R et al.

Acta Neuropathologica Communications, 2017

Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Chen F et al.

Nature Communications, 2017

28775315 (PubMed )
Supplement: 41467_2017_289_MOESM7_ESM.xlsx › mutation_data

A UTX-MLL4-p300 Transcriptional Regulatory Network Coordinately Shapes Active Enhancer Landscapes for Eliciting Transcription.

Wang SP et al.

Molecular Cell, 2017

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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."