Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Y1482C
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CREBBP

NM_004380.3:p.Y1482C

Associated Papers

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

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

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

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

Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.

Bastos-Oreiro M et al.

Scientific Reports, 2021

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

Targeted next generation sequencing reveals high mutation frequency of CREBBP, BCL2 and KMT2D in high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.

Evrard SM et al.

Haematologica, 2019

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

Merk DJ et al.

Developmental Cell, 2018

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

Spena S et al.

Clinical Genetics, 2015

Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

Yoo HJ et al.

International Journal of Molecular Sciences, 2015

25768348 (PubMed )
Supplement: ijms-16-05697-s001.pdf

Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.

Sharma N et al.

Journal of Biosciences, 2010

Rubinstein-Taybi syndrome: clinical and molecular overview.

Roelfsema JH et al.

Expert Reviews in Molecular Medicine, 2007

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Bentivegna A et al.

Bmc Medical Genetics, 2006

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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."