CREBBP c.508C>T ;(p.Q170*)

Variant ID: 16-3900588-G-A

NM_004380.2(CREBBP):c.508C>T;(p.Q170*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CREBBP: 508C>T; Gln170Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: CREBBP: 508C>T; Gln170Ter
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



An Anatomical Site and Genetic-Based Prognostic Model for Patients With Nuclear Protein in Testis (NUT) Midline Carcinoma: Analysis of 124 Patients.

Jnci Cancer Spectrum
Chau, Nicole G NG; Ma, Clement C; Danga, Kristina K; Al-Sayegh, Hasan H; Nardi, Valentina V; Barrette, Ryan R; Lathan, Christopher S CS; DuBois, Steven G SG; Haddad, Robert I RI; Shapiro, Geoffrey I GI; Sallan, Stephen E SE; Dhar, Arindam A; Nelson, Jeanenne J JJ; French, Christopher A CA
Publication Date: 2020-04

Variant appearance in text: CREBBP: 508C>T; Q170*
PubMed Link: 32328562
Variant Present in the following documents:
  • pkz094_supplementary_data.pdf
View BVdb publication page



Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Nature
Morin, Ryan D RD; Mendez-Lago, Maria M; Mungall, Andrew J AJ; Goya, Rodrigo R; Mungall, Karen L KL; Corbett, Richard D RD; Johnson, Nathalie A NA; Severson, Tesa M TM; Chiu, Readman R; Field, Matthew M; Jackman, Shaun S; Krzywinski, Martin M; Scott, David W DW; Trinh, Diane L DL; Tamura-Wells, Jessica J; Li, Sa S; Firme, Marlo R MR; Rogic, Sanja S; Griffith, Malachi M; Chan, Susanna S; Yakovenko, Oleksandr O; Meyer, Irmtraud M IM; Zhao, Eric Y EY; Smailus, Duane D; Moksa, Michelle M; Chittaranjan, Suganthi S; Rimsza, Lisa L; Brooks-Wilson, Angela A; Spinelli, John J JJ; Ben-Neriah, Susana S; Meissner, Barbara B; Woolcock, Bruce B; Boyle, Merrill M; McDonald, Helen H; Tam, Angela A; Zhao, Yongjun Y; Delaney, Allen A; Zeng, Thomas T; Tse, Kane K; Butterfield, Yaron Y; Birol, Inanç I; Holt, Rob R; Schein, Jacqueline J; Horsman, Douglas E DE; Moore, Richard R; Jones, Steven J M SJ; Connors, Joseph M JM; Hirst, Martin M; Gascoyne, Randy D RD; Marra, Marco A MA
Publication Date: 2011-07-27

Variant appearance in text: CREBBP: Q170*
PubMed Link: 21796119
Variant Present in the following documents:
  • NIHMS313098-supplement-10.xls, sheet 1
View BVdb publication page