Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.W1472C
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CREBBP

NM_004380.3:p.W1472C

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

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.

Newman H et al.

Haematologica, 2024

38385299 (PubMed )
Supplement: 2023_284855_NEWMAN_SUPPL.pdf

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

Report of two patients in whom comparisons of the somatic mutation profile were useful for the diagnosis of metastatic tumors.

Furukawa K et al.

Surgical Case Reports, 2022

36459241 (PubMed )
Supplement: 40792_2022_1566_MOESM2_ESM.pdf

Distinct mutational backgrounds and clonal architectures implicated prognostic discrepancies in small-cell carcinomas of the esophagus and lung.

Song Z et al.

Cell Death & Disease, 2021

33980813 (PubMed )
Supplement: 41419_2021_3754_MOESM2_ESM.xlsx › Table_S2

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › All_Calls

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

Genomic profiling is predictive of response to cisplatin treatment but not to PI3K inhibition in bladder cancer patient-derived xenografts.

Wei L et al.

Oncotarget, 2016

Targeting p300 Addiction in CBP-Deficient Cancers Causes Synthetic Lethality by Apoptotic Cell Death due to Abrogation of MYC Expression.

Ogiwara H et al.

Cancer Discovery, 2016

Oncogenic activity of BIRC2 and BIRC3 mutants independent of nuclear factor-κB-activating potential.

Yamato A et al.

Cancer Science, 2015

26094954 (PubMed )
Supplement: cas0106-1137-sd10.xlsx › Sheet1

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

Mutations and deletions of the CBP gene in human lung cancer.

Kishimoto M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2005

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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."