NF1 c.6970C>T ;(p.Q2324*)

Variant ID: 17-29667571-C-T

NM_001042492.2(NF1):c.6970C>T;(p.Q2324*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Megakaryopoiesis impairment through acute innate immune signaling activation by azacitidine.

The Journal Of Experimental Medicine
Okoye-Okafor, Ujunwa Cynthia UC; Javarappa, Komal K KK; Tsallos, Dimitrios D; Saad, Joseph J; Yang, Daozheng D; Zhang, Chi C; Benard, Lumie L; Thiruthuvanathan, Victor J VJ; Cole, Sally S; Ruiz, Stephen S; Tatiparthy, Madhuri M; Choudhary, Gaurav G; DeFronzo, Stefanie S; Bartholdy, Boris A BA; Pallaud, Celine C; Ramos, Pedro Marques PM; Shastri, Aditi A; Verma, Amit A; Heckman, Caroline A CA; Will, Britta B
Publication Date: 2022-11-07

Variant appearance in text: NF1: Q2324*
PubMed Link: 36053753
Variant Present in the following documents:
  • JEM_20212228_TableS5.xlsx, sheet 1
View BVdb publication page



Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology
Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y
Publication Date: 2022

Variant appearance in text: NF1: Q2324X
PubMed Link: 35966080
Variant Present in the following documents:
  • Table_1.xlsx, sheet 5
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: NF1: Q2324*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.

Journal Of Biomedical Science
Wu-Chou, Yah-Huei YH; Hung, Tzu-Chao TC; Lin, Yin-Ting YT; Cheng, Hsing-Wen HW; Lin, Ju-Li JL; Lin, Chih-Hung CH; Yu, Chung-Chih CC; Chen, Kuo-Ting KT; Yeh, Tu-Hsueh TH; Chen, Yu-Ray YR
Publication Date: 2018-10-05

Variant appearance in text: NF1: 6970C>T
PubMed Link: 30290804
Variant Present in the following documents:
  • Main text
  • 12929_2018_Article_474.pdf
View BVdb publication page