NF1 c.2330G>A ;(p.W777*)

Variant ID: 17-29554545-G-A

NM_001042492.2(NF1):c.2330G>A;(p.W777*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Scientific Reports
Huang, Fuxue F; Li, Jingjing J; Wen, Xizhi X; Zhu, Baoyan B; Liu, Wei W; Wang, Jiuhong J; Jiang, Hang H; Ding, Ya Y; Li, Dandan D; Zhang, Xiaoshi X
Publication Date: 2022-06-10

Variant appearance in text: NF1: 2330G>A; W777*
PubMed Link: 35688842
Variant Present in the following documents:
  • 41598_2022_13391_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Genes
Pinna, Valentina V; Daniele, Paola P; Calcagni, Giulio G; Mariniello, Lucio L; Criscione, Roberta R; Giardina, Chiara C; Lepri, Francesca Romana FR; Hozhabri, Hossein H; Alberico, Angela A; Cavone, Stefania S; Morella, Annunziata Tina AT; Mandile, Roberta R; Annunziata, Francesca F; Di Giosaffatte, Niccolò N; D'Asdia, Maria Cecilia MC; Versacci, Paolo P; Capolino, Rossella R; Strisciuglio, Pietro P; Giustini, Sandra S; Melis, Daniela D; Digilio, Maria Cristina MC; Tartaglia, Marco M; Marino, Bruno B; De Luca, Alessandro A
Publication Date: 2019-09-04

Variant appearance in text: NF1: 2330G>A; Trp777Ter
PubMed Link: 31487937
Variant Present in the following documents:
  • genes-10-00675-s001.xlsx, sheet 1
View BVdb publication page



From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.

Genome Medicine
Perera-Bel, Júlia J; Hutter, Barbara B; Heining, Christoph C; Bleckmann, Annalen A; Fröhlich, Martina M; Fröhling, Stefan S; Glimm, Hanno H; Brors, Benedikt B; Beißbarth, Tim T
Publication Date: 2018-03-15

Variant appearance in text: NF1: W777X
PubMed Link: 29544535
Variant Present in the following documents:
  • 13073_2018_529_MOESM5_ESM.pdf
  • 13073_2018_529_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



BRAF/NRAS wild-type melanoma, NF1 status and sensitivity to trametinib.

Pigment Cell & Melanoma Research
Ranzani, Marco M; Alifrangis, Constantine C; Perna, Daniele D; Dutton-Regester, Ken K; Pritchard, Antonia A; Wong, Kim K; Rashid, Mamunur M; Robles-Espinoza, Carla Daniela CD; Hayward, Nicholas K NK; McDermott, Ultan U; Garnett, Mathew M; Adams, David J DJ
Publication Date: 2015-01

Variant appearance in text: NF1: W777X
PubMed Link: 25243813
Variant Present in the following documents:
  • pcmr0028-0117-sd4.xlsx, sheet 1
View BVdb publication page