NF1 c.6700C>T ;(p.Q2234*)

Variant ID: 17-29664894-C-T

NM_001042492.2(NF1):c.6700C>T;(p.Q2234*)

This variant was identified in 7 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: Q2234*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Utilisation of semiconductor sequencing for the detection of predictive biomarkers in glioblastoma.

Plos One
Williams, Gareth G; Llewelyn, Alexander A; Thatcher, Robert R; Hardisty, Keeda-Marie KM; Loddo, Marco M
Publication Date: 2022

Variant appearance in text: NF1: 6700C>T; Gln2234Ter
PubMed Link: 35324914
Variant Present in the following documents:
  • pone.0245817.s005.pdf
View BVdb publication page



Genomic and transcriptomic landscape of conjunctival melanoma.

Plos Genetics
Cisarova, Katarina K; Folcher, Marc M; El Zaoui, Ikram I; Pescini-Gobert, Rosanna R; Peter, Virginie G VG; Royer-Bertrand, Beryl B; Zografos, Leonidas L; Schalenbourg, Ann A; Nicolas, Michael M; Rimoldi, Donata D; Leyvraz, Serge S; Riggi, Nicolò N; Moulin, Alexandre P AP; Rivolta, Carlo C
Publication Date: 2020-12

Variant appearance in text: NF1: 6700C>T; Q2234*
PubMed Link: 33383577
Variant Present in the following documents:
  • pgen.1009201.s006.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: NF1: Q2234*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: NF1: 6700C>T; Q2234*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles.

Cell Reports
Farshidfar, Farshad F; Zheng, Siyuan S; Gingras, Marie-Claude MC; Newton, Yulia Y; Shih, Juliann J; Robertson, A Gordon AG; Hinoue, Toshinori T; Hoadley, Katherine A KA; Gibb, Ewan A EA; Roszik, Jason J; Covington, Kyle R KR; Wu, Chia-Chin CC; Shinbrot, Eve E; Stransky, Nicolas N; Hegde, Apurva A; Yang, Ju Dong JD; Reznik, Ed E; Sadeghi, Sara S; Pedamallu, Chandra Sekhar CS; Ojesina, Akinyemi I AI; Hess, Julian M JM; Auman, J Todd JT; Rhie, Suhn K SK; Bowlby, Reanne R; Borad, Mitesh J MJ; , ; Zhu, Andrew X AX; Stuart, Josh M JM; Sander, Chris C; Akbani, Rehan R; Cherniack, Andrew D AD; Deshpande, Vikram V; Mounajjed, Taofic T; Foo, Wai Chin WC; Torbenson, Michael S MS; Kleiner, David E DE; Laird, Peter W PW; Wheeler, David A DA; McRee, Autumn J AJ; Bathe, Oliver F OF; Andersen, Jesper B JB; Bardeesy, Nabeel N; Roberts, Lewis R LR; Kwong, Lawrence N LN
Publication Date: 2017-03-14

Variant appearance in text: NF1: Q2234X
PubMed Link: 28297679
Variant Present in the following documents:
  • NIHMS866722-supplement-2.xlsx, sheet 2
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: Gln2234*
PubMed Link: 26214590
Variant Present in the following documents:
  • Main text
View BVdb publication page