CREBBP c.356G>A ;(p.G119D)

Variant ID: 16-3900740-C-T

NM_004380.2(CREBBP):c.356G>A;(p.G119D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Intravascular Large B-Cell Lymphoma Genomic Profile Is Characterized by Alterations in Genes Regulating NF-κB and Immune Checkpoints.

The American Journal Of Surgical Pathology
Gonzalez-Farre, Blanca B; Ramis-Zaldivar, Joan E JE; Castrejón de Anta, Natalia N; Rivas-Delgado, Alfredo A; Nadeu, Ferran F; Salmeron-Villalobos, Julia J; Enjuanes, Anna A; Karube, Kennosuke K; Balagué, Olga O; Cobo, Francesc F; Kelleher, Nicholas N; Victoria, Ingrid I; Veloza, Luis L; Teixido, Cristina C; Giné, Eva E; Lopez-Guerra, Mónica M; Quintanilla-Martinez, Leticia L; Lopez-Guillermo, Armando A; Salaverria, Itziar I; Campo, Elias E
Publication Date: 2022-10-12

Variant appearance in text: CREBBP: 356G>A; Gly119Asp
PubMed Link: 36221796
Variant Present in the following documents:
  • pas-47-202-s007.xlsx, sheet 1
View BVdb publication page



Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Blood Advances
Frauenfeld, Leonie L; Castrejon-de-Anta, Natalia N; Ramis-Zaldivar, Joan Enric JE; Streich, Sebastian S; Salmerón-Villalobos, Julia J; Otto, Franziska F; Mayer, Annika Katharina AK; Steinhilber, Julia J; Pinyol, Magda M; Mankel, Barbara B; Ramsower, Colleen C; Bonzheim, Irina I; Fend, Falko F; Rimsza, Lisa M LM; Salaverria, Itziar I; Campo, Elias E; Balagué, Olga O; Quintanilla-Martinez, Leticia L
Publication Date: 2022-04-12

Variant appearance in text: CREBBP: G119D
PubMed Link: 34654055
Variant Present in the following documents:
  • advancesADV2021006034-suppl1.pdf
View BVdb publication page