NOTCH1 c.777C>A ;(p.D259E)

Variant ID: 9-139413983-G-T

NM_017617.3(NOTCH1):c.777C>A;(p.D259E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: NOTCH1: 777C>A; D259E
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: NOTCH1: D259E
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Loss of heterozygosity: what is it good for?

Bmc Medical Genomics
Ryland, Georgina L GL; Doyle, Maria A MA; Goode, David D; Boyle, Samantha E SE; Choong, David Y H DY; Rowley, Simone M SM; Li, Jason J; , ; Bowtell, David D L DD; Tothill, Richard W RW; Campbell, Ian G IG; Gorringe, Kylie L KL
Publication Date: 2015-08-01

Variant appearance in text: NOTCH1: 777C>A; Asp259Glu
PubMed Link: 26231170
Variant Present in the following documents:
  • 12920_2015_123_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page