Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.R1985H
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CREBBP

NM_004380.3:p.R1985H

Associated Papers

Mutations in CREBBP and EP300 HAT and Bromo Domains Drive Hypermutation and Predict Survival in GI Cancers Treated with Immunotherapy.

Gusakova M et al.

Biomedicines, 2025

41301688 (PubMed )
Supplement: biomedicines-13-02592-s001.zip › Supplementary_Table_S7.xlsx › ____1

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

40085681 (PubMed )
Supplement: elife-96519-supp3.xlsx › ALL-SNV

TP53 Variant in the Blood of a Patient with Gastric Cancer Undergoing Tumor Profiling Tests Diagnosed as Clonal Hematopoiesis.

Kawai M et al.

The American Journal of Case Reports, 2022

Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Aoyagi Y et al.

Plos One, 2022

35358259 (PubMed )
Supplement: pone.0266112.s001.xlsx › Patients

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
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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."