NF1 c.307A>T ;(p.R103*)

Variant ID: 17-29490222-A-T

NM_001042492.2(NF1):c.307A>T;(p.R103*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Cell Reports
Ramakrishnan, Gopalakrishnan G; Parajuli, Parash P; Singh, Pura P; Friend, Creighton C; Hurwitz, Eric E; Prunier, Celine C; Razzaque, Mohammed S MS; Xu, Keli K; Atfi, Azeddine A
Publication Date: 2022-11-08

Variant appearance in text: NF1: R103*
PubMed Link: 36351408
Variant Present in the following documents:
  • NIHMS1848910-supplement-2.xlsx, sheet 3
  • NIHMS1848910-supplement-2.xlsx, sheet 2
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: R103*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: NF1: Arg103Ter
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 6
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
View BVdb publication page



Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.

Nature Communications
Seki, Masafumi M; Nishimura, Riki R; Yoshida, Kenichi K; Shimamura, Teppei T; Shiraishi, Yuichi Y; Sato, Yusuke Y; Kato, Motohiro M; Chiba, Kenichi K; Tanaka, Hiroko H; Hoshino, Noriko N; Nagae, Genta G; Shiozawa, Yusuke Y; Okuno, Yusuke Y; Hosoi, Hajime H; Tanaka, Yukichi Y; Okita, Hajime H; Miyachi, Mitsuru M; Souzaki, Ryota R; Taguchi, Tomoaki T; Koh, Katsuyoshi K; Hanada, Ryoji R; Kato, Keisuke K; Nomura, Yuko Y; Akiyama, Masaharu M; Oka, Akira A; Igarashi, Takashi T; Miyano, Satoru S; Aburatani, Hiroyuki H; Hayashi, Yasuhide Y; Ogawa, Seishi S; Takita, Junko J
Publication Date: 2015-07-03

Variant appearance in text: NF1: R103X
PubMed Link: 26138366
Variant Present in the following documents:
  • ncomms8557-s5.xlsx, sheet 1
  • ncomms8557-s1.pdf
View BVdb publication page