NF1 c.4082T>G ;(p.L1361R)

Variant ID: 17-29576109-T-G

NM_001042492.2(NF1):c.4082T>G;(p.L1361R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance.

Oncology Reports
Tak, Eunyoung E; Kim, Minhee M; Cho, Youngra Y; Choi, Sueun S; Kim, Jihun J; Han, Buhm B; Kim, Hyung-Don HD; Jang, Chloe Soo-Hyun CS; Kim, Jeong Eun JE; Hong, Yong Sang YS; Kim, Sun Young SY; Kim, Tae Won TW
Publication Date: 2022-01

Variant appearance in text: NF1: L1361R
PubMed Link: 34779495
Variant Present in the following documents:
  • Main text
  • or-47-01-08226.pdf
View BVdb publication page



False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
Publication Date: 2019

Variant appearance in text: NF1: 4082T>G; L1361R
PubMed Link: 31513681
Variant Present in the following documents:
  • pone.0222535.s006.xlsx, sheet 1
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: NF1: 4082T>G
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: NF1: 4082T>G; L1361R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chen, Peng-Chieh PC; Yin, Jiani J; Yu, Hui-Wen HW; Yuan, Tao T; Fernandez, Minerva M; Yung, Christina K CK; Trinh, Quang M QM; Peltekova, Vanya D VD; Reid, Jeffrey G JG; Tworog-Dube, Erica E; Morgan, Margaret B MB; Muzny, Donna M DM; Stein, Lincoln L; McPherson, John D JD; Roberts, Amy E AE; Gibbs, Richard A RA; Neel, Benjamin G BG; Kucherlapati, Raju R
Publication Date: 2014-08-05

Variant appearance in text: NF1: L1361R
PubMed Link: 25049390
Variant Present in the following documents:
  • Main text
View BVdb publication page