NF1 c.3280G>T ;(p.E1094*)

Variant ID: 17-29559173-G-T

NM_001042492.2(NF1):c.3280G>T;(p.E1094*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: NF1: 3280G>T; E1094*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



In a multi-institutional cohort of myeloid sarcomas, NFE2 mutation prevalence is lower than previously reported.

Blood Advances
Anekpuritanang, Tauangtham T; Klairmont, Matthew M MM; Gradowski, Joel J; Hagiwara, Kohei K; Bailey, Nathanael G NG; Chandra, Pranil P; Liu, Yiwei Y; Mulder, Heather L HL; Easton, John J; Zhang, Jinghui J; Martin, Michael G MG; Owczarczyk, Anna B AB; Dunlap, Jennifer B JB; Fan, Guang G; Press, Richard D RD; Raess, Philipp W PW
Publication Date: 2021-12-14

Variant appearance in text: NF1: E1094*
PubMed Link: 34559205
Variant Present in the following documents:
  • advancesADV2021004983-suppl1.pdf
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: NF1: 3280G>T
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