NOTCH1 c.213C>T ;(p.A71=)

Variant ID: 9-139418359-G-A

NM_017617.3(NOTCH1):c.213C>T;(p.A71=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies KMT2C as a Potential Tumor Suppressor.

Frontiers In Oncology
Machnicki, Marcin M MM; Rzepakowska, Anna A; Janowska, Joanna I JI; Pepek, Monika M; Krop, Alicja A; Pruszczyk, Katarzyna K; Stawinski, Piotr P; Rydzanicz, Malgorzata M; Grzybowski, Jakub J; Gornicka, Barbara B; Wnuk, Maciej M; Ploski, Rafal R; Osuch-Wojcikiewicz, Ewa E; Stoklosa, Tomasz T
Publication Date: 2022

Variant appearance in text: NOTCH1: A71A
PubMed Link: 35664801
Variant Present in the following documents:
  • Table_3.xlsx, sheet 6
View BVdb publication page



PRL3 enhances T-cell acute lymphoblastic leukemia growth through suppressing T-cell signaling pathways and apoptosis.

Leukemia
Garcia, E G EG; Veloso, A A; Oliveira, M L ML; Allen, J R JR; Loontiens, S S; Brunson, D D; Do, D D; Yan, C C; Morris, R R; Iyer, S S; Garcia, S P SP; Iftimia, N N; Van Loocke, W W; Matthijssens, F F; McCarthy, K K; Barata, J T JT; Speleman, F F; Taghon, T T; Gutierrez, A A; Van Vlierberghe, P P; Haas, W W; Blackburn, J S JS; Langenau, D M DM
Publication Date: 2021-03

Variant appearance in text: NOTCH1: A71A
PubMed Link: 32606318
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer.

Scientific Reports
Fan, Yu Y; Hu, Yu Y; Yan, Cheng C; Goldman, Radoslav R; Pan, Yang Y; Mazumder, Raja R; Dingerdissen, Hayley M HM
Publication Date: 2018-03-12

Variant appearance in text: NOTCH1: A71A
PubMed Link: 29531238
Variant Present in the following documents:
  • 41598_2018_22345_MOESM3_ESM.xlsx, sheet 1
  • 41598_2018_22345_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page