NF1 c.5101A>T ;(p.K1701*)

Variant ID: 17-29653103-A-T

NM_001042492.2(NF1):c.5101A>T;(p.K1701*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic patterns of malignant peripheral nerve sheath tumor (MPNST) evolution correlate with clinical outcome and are detectable in cell-free DNA.

Cancer Discovery
Cortes-Ciriano, Isidro I; Steele, Christopher D CD; Piculell, Katherine K; Al-Ibraheemi, Alyaa A; Eulo, Vanessa V; Bui, Marilyn M MM; Chatzipli, Aikaterini A; Dickson, Brendan C BC; Borcherding, Dana C DC; Feber, Andrew A; Galor, Alon A; Hart, Jesse J; Jones, Kevin B KB; Jordan, Justin T JT; Kim, Raymond H RH; Lindsay, Daniel D; Miller, Colin C; Nishida, Yoshihiro Y; Proszek, Paula Z PZ; Serrano, Jonathan J; Sundby, R Taylor RT; Szymanski, Jeffrey J JJ; Ullrich, Nicole J NJ; Viskochil, David D; Wang, Xia X; Snuderl, Matija M; Park, Peter J PJ; Flanagan, Adrienne M AM; Hirbe, Angela C AC; Pillay, Nischalan N; Miller, David T DT
Publication Date: 2023-01-04

Variant appearance in text: NF1: 5101A>T; Lys1701*
PubMed Link: 36598417
Variant Present in the following documents:
  • cd-22-0786_supplementary_tables_s1_and_s2_suppst1.xlsx, sheet 1
View BVdb publication page



Genomic Profiling of KRAS/NRAS/BRAF/PIK3CA Wild-Type Metastatic Colorectal Cancer Patients Reveals Novel Mutations in Genes Potentially Associated with Resistance to Anti-EGFR Agents.

Cancers
Rachiglio, Anna Maria AM; Lambiase, Matilde M; Fenizia, Francesca F; Roma, Cristin C; Cardone, Claudia C; Iannaccone, Alessia A; De Luca, Antonella A; Carotenuto, Marianeve M; Frezzetti, Daniela D; Martinelli, Erika E; Maiello, Evaristo E; Ciardiello, Fortunato F; Normanno, Nicola N
Publication Date: 2019-06-20

Variant appearance in text: NF1: 5101A>T; Lys1701Ter
PubMed Link: 31226844
Variant Present in the following documents:
  • Main text
  • cancers-11-00859.pdf
  • cancers-11-00859-s001.pdf
View BVdb publication page