NF1 c.5492G>A ;(p.W1831*)

Variant ID: 17-29654740-G-A

NM_001042492.2(NF1):c.5492G>A;(p.W1831*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: NF1: W1831*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
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Deconvoluting Mechanisms of Acquired Resistance to RAF Inhibitors in BRAFV600E-Mutant Human Glioma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Schreck, Karisa C KC; Morin, Andrew A; Zhao, Guisheng G; Allen, Amy N AN; Flannery, Patrick P; Glantz, Michael M; Green, Adam L AL; Jones, Chris C; Jones, Kenneth L KL; Kilburn, Lindsay B LB; Nazemi, Kellie J KJ; Samuel, David D; Sanford, Bridget B; Solomon, David A DA; Wang, Jiawan J; Pratilas, Christine A CA; Nicolaides, Theodore T; Mulcahy Levy, Jean M JM
Publication Date: 2021-11-15

Variant appearance in text: NF1: W1831*
PubMed Link: 34433654
Variant Present in the following documents:
  • Main text
View BVdb publication page