SNCA c.52_53delinsTG ;(p.A18C)

Variant ID: 4-90756766-GC-CA

NM_000345.3(SNCA):c.52_53delinsTG;(p.A18C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Biophysical characterization of α-synuclein and its controversial structure.

Intrinsically Disordered Proteins
Alderson, T Reid TR; Markley, John L JL
Publication Date: 2013-01-01

Variant appearance in text: SNCA: A18C
PubMed Link: 24634806
Variant Present in the following documents:
  • Main text
  • kidp-01-01-10926255.pdf
View BVdb publication page



Phosphorylation at Ser-129 but not the phosphomimics S129E/D inhibits the fibrillation of alpha-synuclein.

The Journal Of Biological Chemistry
Paleologou, Katerina E KE; Schmid, Adrian W AW; Rospigliosi, Carla C CC; Kim, Hai-Young HY; Lamberto, Gonzalo R GR; Fredenburg, Ross A RA; Lansbury, Peter T PT; Fernandez, Claudio O CO; Eliezer, David D; Zweckstetter, Markus M; Lashuel, Hilal A HA
Publication Date: 2008-06-13

Variant appearance in text: SNCA: A18C
PubMed Link: 18343814
Variant Present in the following documents:
  • Main text
View BVdb publication page