NF1 c.324G>A ;(p.M108I)

Variant ID: 17-29490239-G-A

NM_001042492.2(NF1):c.324G>A;(p.M108I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: NF1: 324G>A; M108I
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
  • Table_2.xlsx, sheet 2
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Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
Publication Date: 2021-08-31

Variant appearance in text: NF1: 324G>A
PubMed Link: 34465776
Variant Present in the following documents:
  • 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gopal, Raj K RK; Calvo, Sarah E SE; Shih, Angela R AR; Chaves, Frances L FL; McGuone, Declan D; Mick, Eran E; Pierce, Kerry A KA; Li, Yang Y; Garofalo, Andrea A; Van Allen, Eliezer M EM; Clish, Clary B CB; Oliva, Esther E; Mootha, Vamsi K VK
Publication Date: 2018-07-03

Variant appearance in text: NF1: M108I
PubMed Link: 29915083
Variant Present in the following documents:
  • pnas.1711888115.sd01.xlsx, sheet 3
View BVdb publication page



Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.

Nature Genetics
Krauthammer, Michael M; Kong, Yong Y; Bacchiocchi, Antonella A; Evans, Perry P; Pornputtapong, Natapol N; Wu, Cen C; McCusker, James P JP; Ma, Shuangge S; Cheng, Elaine E; Straub, Robert R; Serin, Merdan M; Bosenberg, Marcus M; Ariyan, Stephan S; Narayan, Deepak D; Sznol, Mario M; Kluger, Harriet M HM; Mane, Shrikant S; Schlessinger, Joseph J; Lifton, Richard P RP; Halaban, Ruth R
Publication Date: 2015-09

Variant appearance in text: NF1: Met108Ile
PubMed Link: 26214590
Variant Present in the following documents:
  • Main text
View BVdb publication page