Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Q1491K
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CREBBP

NM_004380.3:p.Q1491K

Associated Papers

Organismal metabolism regulates the expansion of oncogenic PIK3CA mutant clones in normal esophagus.

Herms A et al.

Nature Genetics, 2024

39169259 (PubMed )
Supplement: 41588_2024_1891_MOESM6_ESM.xlsx › Fig_1a

Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia.

Brandes D et al.

Hemasphere, 2023

Personalized monitoring of circulating tumor DNA with a specific signature of trackable mutations after chimeric antigen receptor T-cell therapy in follicular lymphoma patients.

Jiménez-Ubieto A et al.

Frontiers in Immunology, 2023

37342332 (PubMed )
Supplement: Table_2.xlsx › Sheet1

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

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_MOESM13_ESM.xlsx › S6._A-485

Mutation landscape, clonal evolution pattern, and potential pathogenic pathways in B-lymphoblastic transformation of follicular lymphoma.

Nie K et al.

Leukemia, 2021

32788647 (PubMed )
Supplement: 41375_2020_1014_MOESM7_ESM.xlsx › Case_3

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

CARM1 inhibition reduces histone acetyltransferase activity causing synthetic lethality in CREBBP/EP300-mutated lymphomas.

Veazey KJ et al.

Leukemia, 2020

32576962 (PubMed )
Supplement: NIHMS1600952-supplement-9.pdf

Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Mitchell KA et al.

Nature Communications, 2019

31844068 (PubMed )
Supplement: 41467_2019_13732_MOESM8_ESM.xlsx › Sheet1

Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Surrey LF et al.

Genome Medicine, 2019

31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8

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

Merk DJ et al.

Developmental Cell, 2018

Differences between BCL2-break positive and negative follicular lymphoma unraveled by whole-exome sequencing.

Zamò A et al.

Leukemia, 2018

28824170 (PubMed )
Supplement: 41375_2018_BFleu2017270_MOESM101_ESM.xlsx › S_Table_3b

Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression.

Krøigård AB et al.

Plos One, 2018

29293529 (PubMed )
Supplement: pone.0189887.s003.xlsx › Ark1

Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.

Marks LJ et al.

Frontiers in Pediatrics, 2017

29312904 (PubMed )
Supplement: Table_2.xlsx › Table_S2

Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.

Mar BG et al.

Nature Communications, 2014

24662245 (PubMed )
Supplement: NIHMS568254-supplement-1.pdf

CREBBP HAT domain mutations prevail in relapse cases of high hyperdiploid childhood acute lymphoblastic leukemia.

Inthal A et al.

Leukemia, 2012

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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."