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NOTCH1 c.2071G>A ;(p.G691S)
Variant ID: 9-139409098-C-T
NM_017617.3(
NOTCH1
):c.2071G>A;(p.G691S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 2071G>A; G691S
PubMed Link:
31925297
Variant Present in the following documents:
42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
A novel tumour-suppressor function for the Notch pathway in myeloid leukaemia.
Nature
Klinakis, Apostolos A; Lobry, Camille C; Abdel-Wahab, Omar O; Oh, Philmo P; Haeno, Hiroshi H; Buonamici, Silvia S; van De Walle, Inge I; Cathelin, Severine S; Trimarchi, Thomas T; Araldi, Elisa E; Liu, Cynthia C; Ibrahim, Sherif S; Beran, Miroslav M; Zavadil, Jiri J; Efstratiadis, Argiris A; Taghon, Tom T; Michor, Franziska F; Levine, Ross L RL; Aifantis, Iannis I
Publication Date: 2011-05-12
Variant appearance in text: NOTCH1: G691S
PubMed Link:
21562564
Variant Present in the following documents:
NIHMS280592-supplement-2.pdf
View BVdb publication page