Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.R86*
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EP300

NM_001429.4:p.R86*

Associated Papers

Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.

Kayhan G et al.

Genes, 2026

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.

Torrens L et al.

Nature Genetics, 2025

40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.

Pomares AA et al.

Plos One, 2025

40067847 (PubMed )
Supplement: pone.0318689.s001.zip › supplementary_material › TABLE_S3._Mutations_in_DLBCL__86_cases_.xlsx › Hoja1

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

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

SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.

Pitts HA et al.

International Journal of Molecular Sciences, 2023

37298647 (PubMed )
Supplement: ijms-24-09696-s001.zip › Manuscript_SPINK2_supplementary_tables.xlsx › Table_S14

Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.

Ju Y et al.

Frontiers in Genetics, 2021

34194478 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S6

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Fergelot P et al.

American Journal of Medical Genetics. Part A, 2016

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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."