NF1 c.501T>A ;(p.C167*)

Variant ID: 17-29496930-T-A

NM_001042492.2(NF1):c.501T>A;(p.C167*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Preclinical Models of Follicular Cell-Derived Thyroid Cancer: An Overview from Cancer Cell Lines to Mouse Models.

Endocrinology And Metabolism (Seoul, Korea)
Jeon, Min Ji MJ; Haugen, Bryan R BR
Publication Date: 2022-12

Variant appearance in text: NF1: C167*
PubMed Link: 36604954
Variant Present in the following documents:
  • enm-2022-1636.pdf
View BVdb publication page



LIMD2 Regulates Key Steps of Metastasis Cascade in Papillary Thyroid Cancer Cells via MAPK Crosstalk.

Cells
Araldi, Rodrigo Pinheiro RP; de Melo, Thatiana Correa TC; Levy, Débora D; de Souza, Dener Madeiro DM; Maurício, Beatriz B; Colozza-Gama, Gabriel Avelar GA; Bydlowski, Sergio Paulo SP; Peng, Hongzhuang H; Rauscher, Frank J FJ; Cerutti, Janete Maria JM
Publication Date: 2020-11-23

Variant appearance in text: NF1: C167*
PubMed Link: 33238381
Variant Present in the following documents:
  • Main text
  • cells-09-02522.pdf
View BVdb publication page



Combinatorial Therapies in Thyroid Cancer: An Overview of Preclinical and Clinical Progresses.

Cells
Laetitia, Gheysen G; Sven, Saussez S; Fabrice, Journe J
Publication Date: 2020-03-30

Variant appearance in text: NF1: 501T>A; Cys167Ter
PubMed Link: 32235612
Variant Present in the following documents:
  • Main text
  • cells-09-00830.pdf
View BVdb publication page



Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers
Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V
Publication Date: 2019-11-21

Variant appearance in text: NF1: 501T>A; Cys167*
PubMed Link: 31766501
Variant Present in the following documents:
  • Main text
  • cancers-11-01838.pdf
View BVdb publication page



Comprehensive Genetic Characterization of Human Thyroid Cancer Cell Lines: A Validated Panel for Preclinical Studies.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Landa, Iñigo I; Pozdeyev, Nikita N; Korch, Christopher C; Marlow, Laura A LA; Smallridge, Robert C RC; Copland, John A JA; Henderson, Ying C YC; Lai, Stephen Y SY; Clayman, Gary L GL; Onoda, Naoyoshi N; Tan, Aik Choon AC; Garcia-Rendueles, Maria E R MER; Knauf, Jeffrey A JA; Haugen, Bryan R BR; Fagin, James A JA; Schweppe, Rebecca E RE
Publication Date: 2019-05-15

Variant appearance in text: NF1: C167*
PubMed Link: 30737244
Variant Present in the following documents:
  • Main text
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: 501T>A
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: 501T>A; C167*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page