CREBBP c.3091C>T ;(p.Q1031*)

Variant ID: 16-3817880-G-A

NM_004380.2(CREBBP):c.3091C>T;(p.Q1031*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Detection of early seeding of Richter transformation in chronic lymphocytic leukemia.

Nature Medicine
Nadeu, Ferran F; Royo, Romina R; Massoni-Badosa, Ramon R; Playa-Albinyana, Heribert H; Garcia-Torre, Beatriz B; Duran-Ferrer, Martí M; Dawson, Kevin J KJ; Kulis, Marta M; Diaz-Navarro, Ander A; Villamor, Neus N; Melero, Juan L JL; Chapaprieta, Vicente V; Dueso-Barroso, Ana A; Delgado, Julio J; Moia, Riccardo R; Ruiz-Gil, Sara S; Marchese, Domenica D; Giró, Ariadna A; Verdaguer-Dot, Núria N; Romo, Mónica M; Clot, Guillem G; Rozman, Maria M; Frigola, Gerard G; Rivas-Delgado, Alfredo A; Baumann, Tycho T; Alcoceba, Miguel M; González, Marcos M; Climent, Fina F; Abrisqueta, Pau P; Castellví, Josep J; Bosch, Francesc F; Aymerich, Marta M; Enjuanes, Anna A; Ruiz-Gaspà, Sílvia S; López-Guillermo, Armando A; Jares, Pedro P; Beà, Sílvia S; Capella-Gutierrez, Salvador S; Gelpí, Josep Ll JL; López-Bigas, Núria N; Torrents, David D; Campbell, Peter J PJ; Gut, Ivo I; Rossi, Davide D; Gaidano, Gianluca G; Puente, Xose S XS; Garcia-Roves, Pablo M PM; Colomer, Dolors D; Heyn, Holger H; Maura, Francesco F; Martín-Subero, José I JI; Campo, Elías E
Publication Date: 2022-08

Variant appearance in text: CREBBP: 3091C>T; Gln1031*
PubMed Link: 35953718
Variant Present in the following documents:
  • 41591_2022_1927_MOESM3_ESM.xlsx, sheet 21
View BVdb publication page



Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fangazio, Marco M; Ladewig, Erik E; Gomez, Karen K; Garcia-Ibanez, Laura L; Kumar, Rahul R; Teruya-Feldstein, Julie J; Rossi, Davide D; Filip, Ioan I; Pan-Hammarström, Qiang Q; Inghirami, Giorgio G; Boldorini, Renzo R; Ott, German G; Staiger, Annette M AM; Chapuy, Björn B; Gaidano, Gianluca G; Bhagat, Govind G; Basso, Katia K; Rabadan, Raul R; Pasqualucci, Laura L; Dalla-Favera, Riccardo R
Publication Date: 2021-06-01

Variant appearance in text: CREBBP: Q1031*
PubMed Link: 34050029
Variant Present in the following documents:
  • pnas.2104504118.sd02.xlsx, sheet 1
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: CREBBP: Q1031X
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page