NF1 c.2810T>A ;(p.L937*)

Variant ID: 17-29556443-T-A

NM_001042492.2(NF1):c.2810T>A;(p.L937*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Cancers
Paterra, Rosina R; Bettinaglio, Paola P; Borghi, Arianna A; Mangano, Eleonora E; Tritto, Viviana V; Cesaretti, Claudia C; Schettino, Carla C; Bordoni, Roberta R; Santoro, Claudia C; Avignone, Sabrina S; Moscatelli, Marco M; Melone, Mariarosa Anna Beatrice MAB; Saletti, Veronica V; Piluso, Giulio G; Natacci, Federica F; Riva, Paola P; Eoli, Marica M
Publication Date: 2022-12-22

Variant appearance in text: NF1: 2810T>A; Leu937*
PubMed Link: 36612057
Variant Present in the following documents:
  • cancers-15-00059.pdf
View BVdb publication page



Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.

Genes
Bianchessi, Donatella D; Ibba, Maria Cristina MC; Saletti, Veronica V; Blasa, Stefania S; Langella, Tiziana T; Paterra, Rosina R; Cagnoli, Giulia Anna GA; Melloni, Giulia G; Scuvera, Giulietta G; Natacci, Federica F; Cesaretti, Claudia C; Finocchiaro, Gaetano G; Eoli, Marica M
Publication Date: 2020-06-19

Variant appearance in text: NF1: 2810T>A; Leu937*
PubMed Link: 32575496
Variant Present in the following documents:
  • Main text
  • genes-11-00671.pdf
View BVdb publication page



Genomic portfolio of Merkel cell carcinoma as determined by comprehensive genomic profiling: implications for targeted therapeutics.

Oncotarget
Cohen, Philip R PR; Tomson, Brett N BN; Elkin, Sheryl K SK; Marchlik, Erica E; Carter, Jennifer L JL; Kurzrock, Razelle R
Publication Date: 2016-04-26

Variant appearance in text: NF1: L937*
PubMed Link: 26981779
Variant Present in the following documents:
  • Main text
  • oncotarget-07-23454.pdf
View BVdb publication page