NOTCH1 c.6836C>T ;(p.A2279V)

Variant ID: 9-139391355-G-A

NM_017617.3(NOTCH1):c.6836C>T;(p.A2279V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 6836C>T; Ala2279Val
PubMed Link: 33503190
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene mutations in primary tumors and corresponding patient-derived xenografts derived from non-small cell lung cancer.

Cancer Letters
Hao, Chuncheng C; Wang, Li L; Peng, Shaohua S; Cao, Mengru M; Li, Hongyu H; Hu, Jing J; Huang, Xiao X; Liu, Wei W; Zhang, Hui H; Wu, Shuhong S; Pataer, Apar A; Heymach, John V JV; Eterovic, Agda Karina AK; Zhang, Qingxiu Q; Shaw, Kenna R KR; Chen, Ken K; Futreal, Andrew A; Wang, Michael M; Hofstetter, Wayne W; Mehran, Reza R; Rice, David D; Roth, Jack A JA; Sepesi, Boris B; Swisher, Stephen G SG; Vaporciyan, Ara A; Walsh, Garrett L GL; Johnson, Faye M FM; Fang, Bingliang B
Publication Date: 2015-02-01

Variant appearance in text: NOTCH1: A2279V
PubMed Link: 25444907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: NOTCH1: A2279V
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page