CREBBP c.4416G>C ;(p.W1472C)

Variant ID: 16-3786795-C-G

NM_004380.2(CREBBP):c.4416G>C;(p.W1472C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology
Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S
Publication Date: 2020

Variant appearance in text: CREBBP: W1472C
PubMed Link: 33133066
Variant Present in the following documents:
  • Table_6.xlsx, sheet 7
  • Table_6.xlsx, sheet 2
  • Table_1.xlsx, sheet 2
View BVdb publication page



A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Breast Cancer Research : Bcr
Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC
Publication Date: 2020-07-31

Variant appearance in text: CREBBP: 4416G>C; W1472C
PubMed Link: 32736587
Variant Present in the following documents:
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 2
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CREBBP: W1472C
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: CREBBP: W1472C
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Genomic profiling is predictive of response to cisplatin treatment but not to PI3K inhibition in bladder cancer patient-derived xenografts.

Oncotarget
Wei, Lei L; Chintala, Sreenivasulu S; Ciamporcero, Eric E; Ramakrishnan, Swathi S; Elbanna, May M; Wang, Jianmin J; Hu, Qiang Q; Glenn, Sean T ST; Murakami, Mitsuko M; Liu, Lu L; Gomez, Eduardo Cortes EC; Sun, Yuchen Y; Conroy, Jacob J; Miles, Kiersten Marie KM; Malathi, Kullappan K; Ramaiah, Sudha S; Anbarasu, Anand A; Woloszynska-Read, Anna A; Johnson, Candace S CS; Conroy, Jeffrey J; Liu, Song S; Morrison, Carl D CD; Pili, Roberto R
Publication Date: 2016-11-22

Variant appearance in text: CREBBP: W1472C
PubMed Link: 27823983
Variant Present in the following documents:
  • Main text
  • oncotarget-07-76374.pdf
  • oncotarget-07-76374-s002.xlsx, sheet 2
View BVdb publication page



Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.

Nature Communications
Mar, Brenton G BG; Bullinger, Lars B LB; McLean, Kathleen M KM; Grauman, Peter V PV; Harris, Marian H MH; Stevenson, Kristen K; Neuberg, Donna S DS; Sinha, Amit U AU; Sallan, Stephen E SE; Silverman, Lewis B LB; Kung, Andrew L AL; Lo Nigro, Luca L; Ebert, Benjamin L BL; Armstrong, Scott A SA
Publication Date: 2014-03-24

Variant appearance in text: CREBBP: W1472C
PubMed Link: 24662245
Variant Present in the following documents:
  • NIHMS568254-supplement-1.pdf
View BVdb publication page