CREBBP c.1281T>A ;(p.C427*)

Variant ID: 16-3842031-A-T

NM_004380.2(CREBBP):c.1281T>A;(p.C427*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Scientific Reports
Pedrosa, Lucía L; Fernández-Miranda, Ismael I; Pérez-Callejo, David D; Quero, Cristina C; Rodríguez, Marta M; Martín-Acosta, Paloma P; Gómez, Sagrario S; González-Rincón, Julia J; Santos, Adrián A; Tarin, Carlos C; García, Juan F JF; García-Arroyo, Francisco R FR; Rueda, Antonio A; Camacho, Francisca I FI; García-Cosío, Mónica M; Heredero, Ana A; Llanos, Marta M; Mollejo, Manuela M; Piris-Villaespesa, Miguel M; Gómez-Codina, José J; Yanguas-Casás, Natalia N; Sánchez, Antonio A; Piris, Miguel A MA; Provencio, Mariano M; Sánchez-Beato, Margarita M
Publication Date: 2021-01-21

Variant appearance in text: CREBBP: C427*
PubMed Link: 33479306
Variant Present in the following documents:
  • 41598_2020_80376_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma.

Plos One
González-Rincón, Julia J; Méndez, Miriam M; Gómez, Sagrario S; García, Juan F JF; Martín, Paloma P; Bellas, Carmen C; Pedrosa, Lucía L; Rodríguez-Pinilla, Socorro M SM; Camacho, Francisca I FI; Quero, Cristina C; Pérez-Callejo, David D; Rueda, Antonio A; Llanos, Marta M; Gómez-Codina, José J; Piris, Miguel A MA; Montes-Moreno, Santiago S; Bárcena, Carmen C; Rodríguez-Abreu, Delvys D; Menárguez, Javier J; de la Cruz-Merino, Luis L; Monsalvo, Silvia S; Parejo, Consuelo C; Royuela, Ana A; Kwee, Ivo I; Cascione, Luciano L; Arribas, Alberto A; Bertoni, Francesco F; Mollejo, Manuela M; Provencio, Mariano M; Sánchez-Beato, Margarita M
Publication Date: 2019

Variant appearance in text: CREBBP: 1281T>A; Cys427Ter
PubMed Link: 30802265
Variant Present in the following documents:
  • pone.0212813.s010.xlsx, sheet 1
View BVdb publication page