NF1 c.1945G>T ;(p.E649*)

Variant ID: 17-29552212-G-T

NM_001042492.2(NF1):c.1945G>T;(p.E649*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Clinical significance of circulating tumor cells and cell-free DNA in pediatric rhabdomyosarcoma.

Molecular Oncology
Tombolan, Lucia L; Rossi, Elisabetta E; Binatti, Andrea A; Zin, Angelica A; Manicone, Mariangela M; Facchinetti, Antonella A; Lucchetta, Silvia S; Affinita, Maria Carmen MC; Bonvini, Paolo P; Bortoluzzi, Stefania S; Zamarchi, Rita R; Bisogno, Gianni G
Publication Date: 2022-05

Variant appearance in text: NF1: 1945G>T; Glu649*
PubMed Link: 35212153
Variant Present in the following documents:
  • Main text
  • MOL2-16-2071.pdf
View BVdb publication page



Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.

Cancers
Sorrentino, Ugo U; Bellonzi, Silvia S; Mozzato, Chiara C; Brasson, Valeria V; Toldo, Irene I; Parrozzani, Raffaele R; Clementi, Maurizio M; Cassina, Matteo M; Trevisson, Eva E
Publication Date: 2021-12-17

Variant appearance in text: NF1: 1945G>T; Glu649*
PubMed Link: 34944956
Variant Present in the following documents:
  • cancers-13-06336.pdf
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: NF1: E649*
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: NF1: Glu649Ter
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_SourceDataExtFig8.xlsx, sheet 1
View BVdb publication page



Bile cell‑free DNA as a novel and powerful liquid biopsy for detecting somatic variants in biliary tract cancer.

Oncology Reports
Shen, Ningjia N; Zhang, Dadong D; Yin, Lei L; Qiu, Yinghe Y; Liu, Jian J; Yu, Wenlong W; Fu, Xiaohui X; Zhu, Bin B; Xu, Xiaoya X; Duan, Anqi A; Chen, Zishuo Z; Wang, Xiang X; Cao, Xinkai X; Zhao, Teng T; Zhou, Zisong Z; Yu, Lianghe L; Qin, Hao H; Fang, Zheng Z; Li, Jing-Yu JY; Liu, Yuanjin Y; Xiong, Lei L; Yuan, Bo B; Li, Fugen F; Zhang, Yongjie Y
Publication Date: 2019-08

Variant appearance in text: NF1: E649*
PubMed Link: 31173267
Variant Present in the following documents:
  • Main text
  • or-42-02-0549.pdf
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: NF1: 1945G>T
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
View BVdb publication page



VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20

Variant appearance in text: NF1: 1945G>T; E649*
PubMed Link: 27060149
Variant Present in the following documents:
  • supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2
View BVdb publication page