NF1 c.5521C>T ;(p.Q1841*)

Variant ID: 17-29654769-C-T

NM_001042492.2(NF1):c.5521C>T;(p.Q1841*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 5521C>T; Q1841*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Tumor genome analysis includes germline genome: are we ready for surprises?

International Journal Of Cancer
Catenacci, Daniel V T DV; Amico, Andrea L AL; Nielsen, Sarah M SM; Geynisman, Daniel M DM; Rambo, Brittany B; Carey, George B GB; Gulden, Cassandra C; Fackenthal, Jim J; Marsh, Robert D RD; Kindler, Hedy L HL; Olopade, Olufunmilayo I OI
Publication Date: 2015-04-01

Variant appearance in text: NF1: Q1841*
PubMed Link: 25123297
Variant Present in the following documents:
  • ijc0136-1559.pdf
View BVdb publication page