NOTCH1 c.2266G>A ;(p.E756K)

Variant ID: 9-139407931-C-T

NM_017617.3(NOTCH1):c.2266G>A;(p.E756K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: NOTCH1: E756K
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Profile of esophageal squamous cell carcinoma mutations in Brazilian patients.

Scientific Reports
Munari, Fernanda Franco FF; Dos Santos, Wellington W; Evangelista, Adriane Feijó AF; Carvalho, Ana Carolina AC; Pastrez, Paula Aguiar PA; Bugatti, Diego D; Wohnrath, Durval R DR; Scapulatempo-Neto, Cristovam C; Guimarães, Denise Peixoto DP; Longatto-Filho, Adhemar A; Reis, Rui Manuel RM
Publication Date: 2021-10-18

Variant appearance in text: NOTCH1: 2266G>A; Glu756Lys
PubMed Link: 34663841
Variant Present in the following documents:
  • 41598_2021_208_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page