NF1 c.1649dup ;(p.V551Gfs*7)

Variant ID: 17-29548874-C-CT

NM_001042492.2(NF1):c.1649dup;(p.V551Gfs*7)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Iscience
Magallón-Lorenz, Miriam M; Terribas, Ernest E; Ortega-Bertran, Sara S; Creus-Bachiller, Edgar E; Fernández, Marco M; Requena, Gerard G; Rosas, Inma I; Mazuelas, Helena H; Uriarte-Arrazola, Itziar I; Negro, Alex A; Lausová, Tereza T; Castellanos, Elisabeth E; Blanco, Ignacio I; DeVries, George G; Kawashima, Hiroyuki H; Legius, Eric E; Brems, Hilde H; Mautner, Viktor V; Kluwe, Lan L; Ratner, Nancy N; Wallace, Margaret M; Fernández-Rodriguez, Juana J; Lázaro, Conxi C; Fletcher, Jonathan A JA; Reuss, David D; Carrió, Meritxell M; Gel, Bernat B; Serra, Eduard E
Publication Date: 2023-02-17

Variant appearance in text: NF1: 1649dupT; V551Gfs*7
PubMed Link: 36818284
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc2.xlsx, sheet 2
View BVdb publication page



Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.

Oncotarget
Varin, Jennifer J; Poulain, Laury L; Hivelin, Mikael M; Nusbaum, Patrick P; Hubas, Arnaud A; Laurendeau, Ingrid I; Lantieri, Laurent L; Wolkenstein, Pierre P; Vidaud, Michel M; Pasmant, Eric E; Chapuis, Nicolas N; Parfait, Béatrice B
Publication Date: 2016-06-14

Variant appearance in text: NF1: 1649dupT; Val551fs
PubMed Link: 26840085
Variant Present in the following documents:
  • Main text
View BVdb publication page