NOTCH1 c.166C>T ;(p.R56*)

Variant ID: 9-139418406-G-A

NM_017617.3(NOTCH1):c.166C>T;(p.R56*)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: NOTCH1: 166C>T; Arg56Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: NOTCH1: R56*
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: NOTCH1: 166C>T; R56*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: NOTCH1: 166C>T; R56X
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: NOTCH1: 166C>T; R56*
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; BrĂ¼nner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10

Variant appearance in text: NOTCH1: 166C>T; R56*
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism.

Nature Communications
Chen, Ting-Wen TW; Lee, Chi-Ching CC; Liu, Hsuan H; Wu, Chi-Sheng CS; Pickering, Curtis R CR; Huang, Po-Jung PJ; Wang, Jing J; Chang, Ian Yi-Feng IY; Yeh, Yuan-Ming YM; Chen, Chih-De CD; Li, Hsin-Pai HP; Luo, Ji-Dung JD; Tan, Bertrand Chin-Ming BC; Chan, Timothy En Haw TEH; Hsueh, Chuen C; Chu, Lichieh Julie LJ; Chen, Yi-Ting YT; Zhang, Bing B; Yang, Chia-Yu CY; Wu, Chih-Ching CC; Hsu, Chia-Wei CW; See, Lai-Chu LC; Tang, Petrus P; Yu, Jau-Song JS; Liao, Wei-Chao WC; Chiang, Wei-Fan WF; Rodriguez, Henry H; Myers, Jeffrey N JN; Chang, Kai-Ping KP; Chang, Yu-Sun YS
Publication Date: 2017-09-06

Variant appearance in text: NOTCH1: R56X
PubMed Link: 28878238
Variant Present in the following documents:
  • 41467_2017_493_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Novel insight into mutational landscape of head and neck squamous cell carcinoma.

Plos One
Gaykalova, Daria A DA; Mambo, Elizabeth E; Choudhary, Ashish A; Houghton, Jeffery J; Buddavarapu, Kalyan K; Sanford, Tiffany T; Darden, Will W; Adai, Alex A; Hadd, Andrew A; Latham, Gary G; Danilova, Ludmila V LV; Bishop, Justin J; Li, Ryan J RJ; Westra, William H WH; Hennessey, Patrick P; Koch, Wayne M WM; Ochs, Michael F MF; Califano, Joseph A JA; Sun, Wenyue W
Publication Date: 2014

Variant appearance in text: NOTCH1: R56*
PubMed Link: 24667986
Variant Present in the following documents:
  • Main text
  • pone.0093102.pdf
View BVdb publication page



Activation of the NOTCH pathway in head and neck cancer.

Cancer Research
Sun, Wenyue W; Gaykalova, Daria A DA; Ochs, Michael F MF; Mambo, Elizabeth E; Arnaoutakis, Demetri D; Liu, Yan Y; Loyo, Myriam M; Agrawal, Nishant N; Howard, Jason J; Li, Ryan R; Ahn, Sun S; Fertig, Elana E; Sidransky, David D; Houghton, Jeffery J; Buddavarapu, Kalyan K; Sanford, Tiffany T; Choudhary, Ashish A; Darden, Will W; Adai, Alex A; Latham, Gary G; Bishop, Justin J; Sharma, Rajni R; Westra, William H WH; Hennessey, Patrick P; Chung, Christine H CH; Califano, Joseph A JA
Publication Date: 2014-02-15

Variant appearance in text: NOTCH1: R56*
PubMed Link: 24351288
Variant Present in the following documents:
  • Main text
View BVdb publication page