NOTCH1 c.6149A>G ;(p.N2050S)

Variant ID: 9-139393382-T-C

NM_017617.3(NOTCH1):c.6149A>G;(p.N2050S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ferraro, Francesca F; Miller, Christopher A CA; Christensen, Keegan A KA; Helton, Nichole M NM; O'Laughlin, Margaret M; Fronick, Catrina C CC; Fulton, Robert S RS; Kohlschmidt, Jessica J; Eisfeld, Ann-Kathrin AK; Bloomfield, Clara D CD; Ramakrishnan, Sai Mukund SM; Day, Ryan B RB; Wartman, Lukas D LD; Uy, Geoffrey L GL; Welch, John S JS; Christopher, Matthew J MJ; Heath, Sharon E SE; Baty, Jack D JD; Schuelke, Matthew J MJ; Payton, Jacqueline E JE; Spencer, David H DH; Rettig, Michael P MP; Link, Daniel C DC; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Ley, Timothy J TJ
Publication Date: 2021-12-07

Variant appearance in text: NOTCH1: N2050S
PubMed Link: 34845035
Variant Present in the following documents:
  • pnas.2116427118.sd02.xlsx, sheet 1
View BVdb publication page



Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ferraro, Francesca F; Miller, Christopher A CA; Christensen, Keegan A KA; Helton, Nichole M NM; O'Laughlin, Margaret M; Fronick, Catrina C CC; Fulton, Robert S RS; Kohlschmidt, Jessica J; Eisfeld, Ann-Kathrin AK; Bloomfield, Clara D CD; Ramakrishnan, Sai Mukund SM; Day, Ryan B RB; Wartman, Lukas D LD; Uy, Geoffrey L GL; Welch, John S JS; Christopher, Matthew J MJ; Heath, Sharon E SE; Baty, Jack D JD; Schuelke, Matthew J MJ; Payton, Jacqueline E JE; Spencer, David H DH; Rettig, Michael P MP; Link, Daniel C DC; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Ley, Timothy J TJ
Publication Date: 2021-12-07

Variant appearance in text: NOTCH1: N2050S
PubMed Link: 34845035
Variant Present in the following documents:
  • pnas.2116427118.sd02.xlsx, sheet 1
View BVdb publication page



Baseline Genomic Features in BRAFV600-Mutated Metastatic Melanoma Patients Treated with BRAF Inhibitor + MEK Inhibitor in Routine Care.

Cancers
Louveau, Baptiste B; Jouenne, Fanelie F; Reger de Moura, Coralie C; Sadoux, Aurelie A; Baroudjian, Barouyr B; Delyon, Julie J; Herms, Florian F; De Masson, Adele A; Da Meda, Laetitia L; Battistella, Maxime M; Dumaz, Nicolas N; Lebbe, Celeste C; Mourah, Samia S
Publication Date: 2019-08-18

Variant appearance in text: NOTCH1: 6149A>G; N2050S
PubMed Link: 31426590
Variant Present in the following documents:
  • cancers-11-01203-s001.pdf
View BVdb publication page