NOTCH1 c.805G>C ;(p.G269R)

Variant ID: 9-139413955-C-G

NM_017617.3(NOTCH1):c.805G>C;(p.G269R)

This variant was identified in 3 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: G269R
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



SWI/SNF complex alterations as a biomarker of immunotherapy efficacy in pancreatic cancer.

Jci Insight
Botta, Gregory P GP; Kato, Shumei S; Patel, Hitendra H; Fanta, Paul P; Lee, Suzanna S; Okamura, Ryosuke R; Kurzrock, Razelle R
Publication Date: 2021-09-22

Variant appearance in text: NOTCH1: G269R
PubMed Link: 34375311
Variant Present in the following documents:
  • jciinsight-6-150453-s258.pdf
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: G269R
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page