NOTCH1 c.7213C>T ;(p.Q2405*)

Variant ID: 9-139390978-G-A

NM_017617.3(NOTCH1):c.7213C>T;(p.Q2405*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.

Molecular Oncology
Mancikova, Veronika V; Pesova, Michaela M; Pavlova, Sarka S; Helma, Robert R; Zavacka, Kristyna K; Hejret, Vaclav V; Taus, Petr P; Hynst, Jakub J; Plevova, Karla K; Malcikova, Jitka J; Pospisilova, Sarka S
Publication Date: 2022-11-05

Variant appearance in text: NOTCH1: 7213C>T; Gln2405Ter
PubMed Link: 36334078
Variant Present in the following documents:
  • MOL2-17-82-s003.pdf
View BVdb publication page



The evolution of relapse of adult T cell acute lymphoblastic leukemia.

Genome Biology
Sentís, Inés I; Gonzalez, Santiago S; Genescà, Eulalia E; García-Hernández, Violeta V; Muiños, Ferran F; Gonzalez, Celia C; López-Arribillaga, Erika E; Gonzalez, Jessica J; Fernandez-Ibarrondo, Lierni L; Mularoni, Loris L; Espinosa, Lluís L; Bellosillo, Beatriz B; Ribera, Josep-Maria JM; Bigas, Anna A; Gonzalez-Perez, Abel A; Lopez-Bigas, Nuria N
Publication Date: 2020-11-23

Variant appearance in text: NOTCH1: Q2405*
PubMed Link: 33225950
Variant Present in the following documents:
  • 13059_2020_2192_MOESM1_ESM.xlsx, sheet 5
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Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.

The Journal Of Pathology. Clinical Research
Kemps, Paul G PG; Hebeda, Konnie M KM; Pals, Steven T ST; Verdijk, Robert M RM; Lam, King H KH; Bruggink, Annette H AH; de Lil, Heleen S HS; Ruiterkamp, Bart B; de Heer, Koen K; van Laar, Jan Am JA; Valk, Peter Jm PJ; Mutsaers, Pim P; Levin, Mark-David MD; Hogendoorn, Pancras Cw PC; van Halteren, Astrid Gs AG
Publication Date: 2021-01

Variant appearance in text: NOTCH1: Q2405X
PubMed Link: 32852896
Variant Present in the following documents:
  • CJP2-7-10-s001.pdf
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Evolution of retrovirus-infected premalignant T-cell clones prior to adult T-cell leukemia/lymphoma diagnosis.

Blood
Rowan, Aileen G AG; Dillon, Richard R; Witkover, Aviva A; Melamed, Anat A; Demontis, Maria-Antonietta MA; Gillet, Nicolas A NA; Mun, Liew Jun LJ; Bangham, Charles R M CRM; Cook, Lucy B LB; Fields, Paul A PA; Taylor, Graham P GP
Publication Date: 2020-06-04

Variant appearance in text: NOTCH1: Q2405X
PubMed Link: 32160278
Variant Present in the following documents:
  • Main text
View BVdb publication page