NOTCH1 c.1040G>A ;(p.G347D)

Variant ID: 9-139413102-C-T

NM_017617.3(NOTCH1):c.1040G>A;(p.G347D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: NOTCH1: 1040G>A
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A Three-dimensional Ex Vivo Viability Assay Reveals a Strong Correlation Between Response to Targeted Inhibitors and Mutation Status in Melanoma Lymph Node Metastases.

Translational Oncology
Flørenes, Vivi Ann VA; Flem-Karlsen, Karine K; McFadden, Erin E; Bergheim, Inger Riise IR; Nygaard, Vigdis V; Nygård, Vegard V; Farstad, Inger Nina IN; Øy, Geir Frode GF; Emilsen, Elisabeth E; Giller-Fleten, Karianne K; Ree, Anne Hansen AH; Flatmark, Kjersti K; Gullestad, Hans Petter HP; Hermann, Robert R; Ryder, Truls T; Wernhoff, Patrik P; Mælandsmo, Gunhild Mari GM
Publication Date: 2019-07

Variant appearance in text: NOTCH1: G347D
PubMed Link: 31096111
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Scientific Reports
Lin, Peng-Chan PC; Yeh, Yu-Min YM; Wu, Pei-Ying PY; Hsu, Keng-Fu KF; Chang, Jang-Yang JY; Shen, Meng-Ru MR
Publication Date: 2019-03-08

Variant appearance in text: NOTCH1: Gly347Asp
PubMed Link: 30850667
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_40571.pdf
View BVdb publication page



Cerebral vasculitis mimicking intracranial metastatic progression of lung cancer during PD-1 blockade.

Journal For Immunotherapy Of Cancer
Läubli, Heinz H; Hench, Jürgen J; Stanczak, Michal M; Heijnen, Ingmar I; Papachristofilou, Alexandros A; Frank, Stephan S; Zippelius, Alfred A; Stenner-Liewen, Frank F
Publication Date: 2017

Variant appearance in text: NOTCH1: Gly347Asp
PubMed Link: 28642817
Variant Present in the following documents:
  • Main text
  • 40425_2017_Article_249.pdf
View BVdb publication page