NOTCH1 c.4013C>T ;(p.A1338V)

Variant ID: 9-139400980-G-A

NM_017617.3(NOTCH1):c.4013C>T;(p.A1338V)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: NOTCH1: A1338V
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.

International Journal Of Molecular Sciences
Coll, Monica M; Fernandez-Falgueras, Anna A; Iglesias, Anna A; Del Olmo, Bernat B; Nogue-Navarro, Laia L; Simon, Adria A; Perez Serra, Alexandra A; Puigmule, Marta M; Lopez, Laura L; Pico, Ferran F; Corona, Monica M; Vallverdu-Prats, Marta M; Tiron, Coloma C; Campuzano, Oscar O; Castella, Josep J; Brugada, Ramon R; Alcalde, Mireia M
Publication Date: 2022-10-20

Variant appearance in text: NOTCH1: 4013C>T
PubMed Link: 36293497
Variant Present in the following documents:
  • ijms-23-12640.pdf
View BVdb publication page



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: 4013C>T; Ala1338Val
PubMed Link: 35288444
Variant Present in the following documents:
  • heartjnl-2021-320428supp001.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: A1338V
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study.

Clinics (Sao Paulo, Brazil)
da Costa, Leonardo Tomiatti LT; Dos Anjos, Laura Gonzalez LG; Kagohara, Luciane Tsukamoto LT; Torrezan, Giovana Tardin GT; De Paula, Claudia A Andrade CAA; Baracat, Edmund Chada EC; Carraro, Dirce Maria DM; Carvalho, Katia Candido KC
Publication Date: 2021

Variant appearance in text: NOTCH1: 4013C>T; Ala1338Val
PubMed Link: 33503190
Variant Present in the following documents:
  • Main text
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: 4013C>T; A1338V
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

Plos One
Rao, Aditya A; Joseph, Thomas T; Saipradeep, Vangala G VG; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R
Publication Date: 2020

Variant appearance in text: NOTCH1: Ala1338Val
PubMed Link: 32315351
Variant Present in the following documents:
  • pone.0231728.s001.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: NOTCH1: 4013C>T; A1338V
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Bmc Medical Genomics
Rao, Aditya A; Vg, Saipradeep S; Joseph, Thomas T; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R
Publication Date: 2018-07-06

Variant appearance in text: NOTCH1: Ala1338Val
PubMed Link: 29980210
Variant Present in the following documents:
  • 12920_2018_372_MOESM1_ESM.pdf
View BVdb publication page