NF1 c.4536G>A ;(p.W1512*)

Variant ID: 17-29587492-G-A

NM_001042492.2(NF1):c.4536G>A;(p.W1512*)

This variant was identified in 6 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: W1512*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: NF1: W1512*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One
Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R
Publication Date: 2021

Variant appearance in text: NF1: W1512*
PubMed Link: 33556149
Variant Present in the following documents:
  • pone.0246048.s008.xlsx, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: NF1: Trp1512*
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care.

Npj Genomic Medicine
Rennert, Hanna H; Eng, Kenneth K; Zhang, Tuo T; Tan, Adrian A; Xiang, Jenny J; Romanel, Alessandro A; Kim, Robert R; Tam, Wayne W; Liu, Yen-Chun YC; Bhinder, Bhavneet B; Cyrta, Joanna J; Beltran, Himisha H; Robinson, Brian B; Mosquera, Juan Miguel JM; Fernandes, Helen H; Demichelis, Francesca F; Sboner, Andrea A; Kluk, Michael M; Rubin, Mark A MA; Elemento, Olivier O
Publication Date: 2016

Variant appearance in text: NF1: W1512X
PubMed Link: 28781886
Variant Present in the following documents:
  • npjgenmed201619-s3.pdf
View BVdb publication page



Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

Scientific Reports
de Unamuno Bustos, Blanca B; Murria Estal, Rosa R; Pérez Simó, Gema G; de Juan Jimenez, Inmaculada I; Escutia Muñoz, Begoña B; Rodríguez Serna, Mercedes M; Alegre de Miquel, Victor V; Llavador Ros, Margarita M; Ballester Sánchez, Rosa R; Nagore Enguídanos, Eduardo E; Palanca Suela, Sarai S; Botella Estrada, Rafael R
Publication Date: 2017-03-29

Variant appearance in text: NF1: Trp1512*
PubMed Link: 28356599
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_606.pdf
  • 41598_2017_606_MOESM2_ESM.xls, sheet 1
View BVdb publication page