NOTCH1 c.2153A>G ;(p.N718S)

Variant ID: 9-139409016-T-C

NM_017617.3(NOTCH1):c.2153A>G;(p.N718S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: NOTCH1: N718S
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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: N718S
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.

Human Molecular Genetics
Chapman, Gavin G; Moreau, Julie L M JLM; I P, Eddie E; Szot, Justin O JO; Iyer, Kavitha R KR; Shi, Hongjun H; Yam, Michelle X MX; O'Reilly, Victoria C VC; Enriquez, Annabelle A; Greasby, Joelene A JA; Alankarage, Dimuthu D; Martin, Ella M M A EMMA; Hanna, Bernadette C BC; Edwards, Matthew M; Monger, Steven S; Blue, Gillian M GM; Winlaw, David S DS; Ritchie, Helen E HE; Grieve, Stuart M SM; Giannoulatou, Eleni E; Sparrow, Duncan B DB; Dunwoodie, Sally L SL
Publication Date: 2020-03-13

Variant appearance in text: NOTCH1: 2153A>G; N718S
PubMed Link: 31813956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications
Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W
Publication Date: 2019-11-07

Variant appearance in text: NOTCH1: 2153A>G; Asn718Ser
PubMed Link: 31700061
Variant Present in the following documents:
  • 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.

Cell Reports
Campbell, Katie M KM; Lin, Tianxiang T; Zolkind, Paul P; Barnell, Erica K EK; Skidmore, Zachary L ZL; Winkler, Ashley E AE; Law, Jonathan H JH; Mardis, Elaine R ER; Wartman, Lukas D LD; Adkins, Douglas R DR; Chernock, Rebecca D RD; Griffith, Malachi M; Uppaluri, Ravindra R; Griffith, Obi L OL
Publication Date: 2018-08-21

Variant appearance in text: NOTCH1: N718S
PubMed Link: 30134176
Variant Present in the following documents:
  • NIHMS1520774-supplement-Table_S2.xlsx, sheet 1
View BVdb publication page



Mutation allele frequency threshold does not affect prognostic analysis using next-generation sequencing in oral squamous cell carcinoma.

Bmc Cancer
Ma, Jie J; Fu, Yong Y; Tu, Yao-Yao YY; Liu, Ying Y; Tan, Yi-Ran YR; Ju, Wu-Tong WT; Pickering, Curtis R CR; Myers, Jeffrey N JN; Zhang, Zhi-Yuan ZY; Zhong, Lai-Ping LP
Publication Date: 2018-07-24

Variant appearance in text: NOTCH1: Asn718Ser
PubMed Link: 30041611
Variant Present in the following documents:
  • Main text
  • 12885_2018_Article_4481.pdf
View BVdb publication page