NSF c.1936A>G ;(p.T646A)

Variant ID: 17-44827166-A-G

NM_006178.3(NSF):c.1936A>G;(p.T646A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


LRRK2 phosphorylates pre-synaptic N-ethylmaleimide sensitive fusion (NSF) protein enhancing its ATPase activity and SNARE complex disassembling rate.

Molecular Neurodegeneration
Belluzzi, Elisa E; Gonnelli, Adriano A; Cirnaru, Maria-Daniela MD; Marte, Antonella A; Plotegher, Nicoletta N; Russo, Isabella I; Civiero, Laura L; Cogo, Susanna S; Carrion, Maria Perèz MP; Franchin, Cinzia C; Arrigoni, Giorgio G; Beltramini, Mariano M; Bubacco, Luigi L; Onofri, Franco F; Piccoli, Giovanni G; Greggio, Elisa E
Publication Date: 2016-01-13

Variant appearance in text: NSF: T646A
PubMed Link: 26758690
Variant Present in the following documents:
  • Main text
  • 13024_2015_Article_66.pdf
View BVdb publication page