NOTCH1 c.460C>T ;(p.Q154*)

Variant ID: 9-139417584-G-A

NM_017617.3(NOTCH1):c.460C>T;(p.Q154*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Detection of early seeding of Richter transformation in chronic lymphocytic leukemia.

Nature Medicine
Nadeu, Ferran F; Royo, Romina R; Massoni-Badosa, Ramon R; Playa-Albinyana, Heribert H; Garcia-Torre, Beatriz B; Duran-Ferrer, Martí M; Dawson, Kevin J KJ; Kulis, Marta M; Diaz-Navarro, Ander A; Villamor, Neus N; Melero, Juan L JL; Chapaprieta, Vicente V; Dueso-Barroso, Ana A; Delgado, Julio J; Moia, Riccardo R; Ruiz-Gil, Sara S; Marchese, Domenica D; Giró, Ariadna A; Verdaguer-Dot, Núria N; Romo, Mónica M; Clot, Guillem G; Rozman, Maria M; Frigola, Gerard G; Rivas-Delgado, Alfredo A; Baumann, Tycho T; Alcoceba, Miguel M; González, Marcos M; Climent, Fina F; Abrisqueta, Pau P; Castellví, Josep J; Bosch, Francesc F; Aymerich, Marta M; Enjuanes, Anna A; Ruiz-Gaspà, Sílvia S; López-Guillermo, Armando A; Jares, Pedro P; Beà, Sílvia S; Capella-Gutierrez, Salvador S; Gelpí, Josep Ll JL; López-Bigas, Núria N; Torrents, David D; Campbell, Peter J PJ; Gut, Ivo I; Rossi, Davide D; Gaidano, Gianluca G; Puente, Xose S XS; Garcia-Roves, Pablo M PM; Colomer, Dolors D; Heyn, Holger H; Maura, Francesco F; Martín-Subero, José I JI; Campo, Elías E
Publication Date: 2022-08

Variant appearance in text: NOTCH1: 460C>T
PubMed Link: 35953718
Variant Present in the following documents:
  • 41591_2022_1927_MOESM3_ESM.xlsx, sheet 21
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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: NOTCH1: Q154X
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
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Activation of the NOTCH pathway in head and neck cancer.

Cancer Research
Sun, Wenyue W; Gaykalova, Daria A DA; Ochs, Michael F MF; Mambo, Elizabeth E; Arnaoutakis, Demetri D; Liu, Yan Y; Loyo, Myriam M; Agrawal, Nishant N; Howard, Jason J; Li, Ryan R; Ahn, Sun S; Fertig, Elana E; Sidransky, David D; Houghton, Jeffery J; Buddavarapu, Kalyan K; Sanford, Tiffany T; Choudhary, Ashish A; Darden, Will W; Adai, Alex A; Latham, Gary G; Bishop, Justin J; Sharma, Rajni R; Westra, William H WH; Hennessey, Patrick P; Chung, Christine H CH; Califano, Joseph A JA
Publication Date: 2014-02-15

Variant appearance in text: NOTCH1: Q154*
PubMed Link: 24351288
Variant Present in the following documents:
  • Main text
View BVdb publication page