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NF1 c.739G>T ;(p.E247*)
Variant ID: 17-29509534-G-T
NM_001042492.2(
NF1
):c.739G>T;(p.E247*)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.
Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02
Variant appearance in text: NF1: 739G>T; Glu247Ter
PubMed Link:
36862804
Variant Present in the following documents:
cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
View BVdb publication page
Dynamic recurrence risk and adjuvant chemotherapy benefit prediction by ctDNA in resected NSCLC.
Nature Communications
Qiu, Bin B; Guo, Wei W; Zhang, Fan F; Lv, Fang F; Ji, Ying Y; Peng, Yue Y; Chen, Xiaoxi X; Bao, Hua H; Xu, Yang Y; Shao, Yang Y; Tan, Fengwei F; Xue, Qi Q; Gao, Shugeng S; He, Jie J
Publication Date: 2021-11-19
Variant appearance in text: NF1: 739G>T; E247*
PubMed Link:
34799585
Variant Present in the following documents:
41467_2021_27022_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Dynamic recurrence risk and adjuvant chemotherapy benefit prediction by ctDNA in resected NSCLC.
Nature Communications
Qiu, Bin B; Guo, Wei W; Zhang, Fan F; Lv, Fang F; Ji, Ying Y; Peng, Yue Y; Chen, Xiaoxi X; Bao, Hua H; Xu, Yang Y; Shao, Yang Y; Tan, Fengwei F; Xue, Qi Q; Gao, Shugeng S; He, Jie J
Publication Date: 2021-11-19
Variant appearance in text: NF1: 739G>T; E247*
PubMed Link:
34799585
Variant Present in the following documents:
41467_2021_27022_MOESM5_ESM.xlsx, sheet 1
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: NF1: 739G>T; E247*
PubMed Link:
31925297
Variant Present in the following documents:
42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.
Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18
Variant appearance in text: NF1: E247X
PubMed Link:
28716134
Variant Present in the following documents:
13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page