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SNCA c.116_117delinsGG ;(p.Y39W)
Variant ID: 4-90756702-AT-CC
NM_000345.3(
SNCA
):c.116_117delinsGG;(p.Y39W)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Intracellular soluble α-synuclein oligomers reduce pyramidal cell excitability.
The Journal Of Physiology
Kaufmann, Timothy J TJ; Harrison, Paul M PM; Richardson, Magnus J E MJ; Pinheiro, Teresa J T TJ; Wall, Mark J MJ
Publication Date: 2016-05-15
Variant appearance in text: SNCA: Y39W
PubMed Link:
26915902
Variant Present in the following documents:
TJP-594-2751.pdf
View BVdb publication page
Molecular details of α-synuclein membrane association revealed by neutrons and photons.
The Journal Of Physical Chemistry. B
Jiang, Zhiping Z; Hess, Sara K SK; Heinrich, Frank F; Lee, Jennifer C JC
Publication Date: 2015-04-09
Variant appearance in text: SNCA: Y39W
PubMed Link:
25790164
Variant Present in the following documents:
Main text
View BVdb publication page
Structural and dynamical insights into the membrane-bound α-synuclein.
Plos One
Jain, Neha N; Bhasne, Karishma K; Hemaswasthi, M M; Mukhopadhyay, Samrat S
Publication Date: 2013
Variant appearance in text: NACP: Y39W
PubMed Link:
24376740
Variant Present in the following documents:
pone.0083752.pdf
View BVdb publication page
Inhibiting α-synuclein oligomerization by stable cell-penetrating β-synuclein fragments recovers phenotype of Parkinson's disease model flies.
Plos One
Shaltiel-Karyo, Ronit R; Frenkel-Pinter, Moran M; Egoz-Matia, Nirit N; Frydman-Marom, Anat A; Shalev, Deborah E DE; Segal, Daniel D; Gazit, Ehud E
Publication Date: 2010-11-10
Variant appearance in text: NACP: Y39W
PubMed Link:
21085664
Variant Present in the following documents:
pone.0013863.pdf
View BVdb publication page