Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Y1503C
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CREBBP

NM_004380.3:p.Y1503C

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

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Héron D et al.

Brain : a Journal of Neurology, 2025

40905141 (PubMed )
Supplement: awaf311_supplementary_data.zip › brain-2024-03287-File005.xlsx › Feuil1

Structural and functional characterization of CREB-binding protein (CREBBP) as a histone propionyltransferase.

Cui G et al.

The Journal of Biological Chemistry, 2025

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

RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia.

Kubota H et al.

Blood Advances, 2024

38127276 (PubMed )
Supplement: BLOODA_ADV-2023-011583-mmc1.xlsx › Sup.9

Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.

Jin E et al.

Ophthalmic Genetics, 2024

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

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Van Gils J et al.

Genes, 2021

34202860 (PubMed )
Supplement: genes-12-00968-s001.zip › genes-1248377-supplementary.pdf

Genome-wide CRISPR screens reveal synthetic lethal interaction between CREBBP and EP300 in diffuse large B-cell lymphoma.

Nie M et al.

Cell Death & Disease, 2021

33911074 (PubMed )
Supplement: 41419_2021_3695_MOESM12_ESM.xlsx › S5._CREBBBP_and_EP300_mutations

Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Pedrosa L et al.

Scientific Reports, 2021

33479306 (PubMed )
Supplement: 41598_2020_80376_MOESM1_ESM.xlsx › Table_S2._Mutational_data

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

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .

Inactivating mutations of acetyltransferase genes in B-cell lymphoma.

Pasqualucci L et al.

Nature, 2011

21390126 (PubMed )
Supplement: NIHMS256120-supplement-Supplementary_Figures_and_Tables.pdf

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

Schorry EK et al.

American Journal of Medical Genetics. Part A, 2008

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