NOTCH1 c.214G>A ;(p.G72R)

Variant ID: 9-139418358-C-T

NM_017617.3(NOTCH1):c.214G>A;(p.G72R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Heart (British Cardiac Society)
Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP
Publication Date: 2022-06-24

Variant appearance in text: NOTCH1: 214G>A; Gly72Arg; rs892114222
PubMed Link: 35288444
Variant Present in the following documents:
  • heartjnl-2021-320428supp001.pdf
View BVdb publication page



Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: NOTCH1: 214G>A; G72R
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genotyping and Characterization of HPV Status, Hypoxia, and Radiosensitivity in 22 Head and Neck Cancer Cell Lines.

Cancers
Göttgens, Eva-Leonne EL; Ansems, Marleen M; Leenders, William P J WPJ; Bussink, Johan J; Span, Paul N PN
Publication Date: 2021-03-03

Variant appearance in text: NOTCH1: 214G>A; Gly72Arg
PubMed Link: 33802339
Variant Present in the following documents:
  • Main text
  • cancers-13-01069.pdf
  • cancers-13-01069-s001.pdf
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: NOTCH1: G72R
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH1 Signaling in Head and Neck Squamous Cell Carcinoma.

Cells
Shah, Pooja A PA; Huang, Chenfei C; Li, Qiuli Q; Kazi, Sawad A SA; Byers, Lauren A LA; Wang, Jing J; Johnson, Faye M FM; Frederick, Mitchell J MJ
Publication Date: 2020-12-12

Variant appearance in text: NOTCH1: G72R
PubMed Link: 33322834
Variant Present in the following documents:
  • Main text
  • cells-09-02677.pdf
View BVdb publication page