CREBBP c.1319_1320delinsAT ;(p.R440H)

Variant ID: 16-3841992-TC-AT

NM_004380.2(CREBBP):c.1319_1320delinsAT;(p.R440H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated analysis of relapsed B-cell precursor Acute Lymphoblastic Leukemia identifies subtype-specific cytokine and metabolic signatures.

Scientific Reports
Schroeder, Michael P MP; Bastian, Lorenz L; Eckert, Cornelia C; Gökbuget, Nicola N; James, Alva Rani AR; Tanchez, Jutta Ortiz JO; Schlee, Cornelia C; Isaakidis, Konstandina K; Häupl, Björn B; Baum, Katharina K; Migueles Lozano, Oscar Arturo OA; Kouidri, Khouloud K; Pan, Kuan-Ting KT; Urlaub, Henning H; Schwartz, Stefan S; Burmeister, Thomas T; von Stackelberg, Arend A; Hoelzer, Dieter D; Pfeiffer, Heike H; Rieger, Michael A MA; Göllner, Stefanie S; Oellerich, Thomas T; Horstman, Martin M; Schrappe, Martin M; Wolf, Jana J; Kirschner-Schwabe, Renate R; Brüggemann, Monika M; Müller-Tidow, Carsten C; Serve, Hubert H; Neumann, Martin M; Baldus, Claudia D CD
Publication Date: 2019-03-12

Variant appearance in text: CREBBP: R440H
PubMed Link: 30862934
Variant Present in the following documents:
  • 41598_2019_40786_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Acquired resistance to immunotherapy in MMR-D pancreatic cancer.

Journal For Immunotherapy Of Cancer
Hu, Zishuo Ian ZI; Hellmann, Matthew D MD; Wolchok, Jedd D JD; Vyas, Monika M; Shia, Jinru J; Stadler, Zsofia K ZK; Diaz, Luis A LA; O'Reilly, Eileen M EM
Publication Date: 2018-11-20

Variant appearance in text: CREBBP: R440H
PubMed Link: 30458888
Variant Present in the following documents:
  • Main text
  • 40425_2018_Article_448.pdf
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: CREBBP: R440H
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page