CREBBP c.6624A>T ;(p.Q2208H)

Variant ID: 16-3778424-T-A

NM_004380.2(CREBBP):c.6624A>T;(p.Q2208H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia.

Genome Research
Giacopelli, Brian B; Wang, Min M; Cleary, Ada A; Wu, Yue-Zhong YZ; Schultz, Anna Reister AR; Schmutz, Maximilian M; Blachly, James S JS; Eisfeld, Ann-Kathrin AK; Mundy-Bosse, Bethany B; Vosberg, Sebastian S; Greif, Philipp A PA; Claus, Rainer R; Bullinger, Lars L; Garzon, Ramiro R; Coombes, Kevin R KR; Bloomfield, Clara D CD; Druker, Brian J BJ; Tyner, Jeffrey W JW; Byrd, John C JC; Oakes, Christopher C CC
Publication Date: 2021-05

Variant appearance in text: CREBBP: Gln2208His
PubMed Link: 33707228
Variant Present in the following documents:
  • supp_gr.269233.120_Supplemental_Tables_S1_S2_S8-11.xlsx, sheet 5
View BVdb publication page



PTEN deletion drives acute myeloid leukemia resistance to MEK inhibitors.

Oncotarget
Smith, Amanda M AM; Zhang, Christine R C CRC; Cristino, Alexandre S AS; Grady, John P JP; Fink, J Lynn JL; Moore, Andrew S AS
Publication Date: 2019-10-08

Variant appearance in text: CREBBP: Q2208H
PubMed Link: 31645898
Variant Present in the following documents:
  • Main text
  • oncotarget-10-5755.pdf
View BVdb publication page



Activation of hedgehog signaling associates with early disease progression in chronic lymphocytic leukemia.

Blood
Ghia, Emanuela M EM; Rassenti, Laura Z LZ; Neuberg, Donna S DS; Blanco, Alejandro A; Yousif, Fouad F; Smith, Erin N EN; McPherson, John D JD; Hudson, Thomas J TJ; , ; Harismendy, Olivier O; Frazer, Kelly A KA; Kipps, Thomas J TJ
Publication Date: 2019-06-20

Variant appearance in text: CREBBP: Q2208H
PubMed Link: 30923040
Variant Present in the following documents:
  • Main text
View BVdb publication page



FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Journal Of Translational Medicine
Shi, Eileen E; Chmielecki, Juliann J; Tang, Chih-Min CM; Wang, Kai K; Heinrich, Michael C MC; Kang, Guhyun G; Corless, Christopher L CL; Hong, David D; Fero, Katherine E KE; Murphy, James D JD; Fanta, Paul T PT; Ali, Siraj M SM; De Siena, Martina M; Burgoyne, Adam M AM; Movva, Sujana S; Madlensky, Lisa L; Heestand, Gregory M GM; Trent, Jonathan C JC; Kurzrock, Razelle R; Morosini, Deborah D; Ross, Jeffrey S JS; Harismendy, Olivier O; Sicklick, Jason K JK
Publication Date: 2016-12-14

Variant appearance in text: CREBBP: Q2208H
PubMed Link: 27974047
Variant Present in the following documents:
  • 12967_2016_1075_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page