Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.D1435N
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CREBBP

NM_004380.3:p.D1435N

Associated Papers

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

41309586 (PubMed )
Supplement: 41467_2025_65654_MOESM3_ESM.xlsx › Supplementary_Data_4

Missense Mutations in the KAT Domain of CREBBP Gene in Patients with Follicular Lymphoma: Implications for Differential Diagnosis and Prognosis.

Smolianinova A et al.

International Journal of Molecular Sciences, 2025

40725159 (PubMed )
Supplement: ijms-26-06913-s001.zip › ijms-3722294-supplementary.xlsx › 14-18_

EZH2 mutations in follicular lymphoma distort H3K27me3 profiles and alter transcriptional responses to PRC2 inhibition.

Romero P et al.

Nature Communications, 2024

38658543 (PubMed )
Supplement: 41467_2024_47701_MOESM5_ESM.xlsx › Restricted_cohort_of_29

Synchronous T-lymphoblastic lymphoma and neuroblastoma in a 3-yr-old with novel germline SMARCA4 and EZH2 variants.

Tibout P et al.

Cold Spring Harbor Molecular Case Studies, 2023

The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.

Liu M et al.

The Oncologist, 2023

37086484 (PubMed )
Supplement: oyad093_suppl_supplementary_table_1.xlsx › Genetic_Variations

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

Somatic mutations in facial skin from countries of contrasting skin cancer risk.

King C et al.

Nature Genetics, 2023

37537257 (PubMed )
Supplement: 41588_2023_1468_MOESM3_ESM.xlsx › Supp_Table_1

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

Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Antić Ž et al.

Haematologica, 2021

33147938 (PubMed )
Supplement: 2020_259226_ANTIC_SUPPL_TABLES.xlsx › Supplementary_Table_14

The landscape of driver mutations in cutaneous squamous cell carcinoma.

Chang D et al.

Npj Genomic Medicine, 2021

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

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Suzuki H et al.

Nature, 2019

31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.4_Deleterious_SNV__indels

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.

Merk DJ et al.

Developmental Cell, 2018

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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."