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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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