SNCA c.236A>T ;(p.Q79L)

Variant ID: 4-90743467-T-A

NM_000345.3(SNCA):c.236A>T;(p.Q79L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Unconventional secretion of α-synuclein mediated by palmitoylated DNAJC5 oligomers.

Elife
Wu, Shenjie S; Hernandez Villegas, Nancy C NC; Sirkis, Daniel W DW; Thomas-Wright, Iona I; Wade-Martins, Richard R; Schekman, Randy R
Publication Date: 2023-01-10

Variant appearance in text: SNCA: Q79L
PubMed Link: 36626307
Variant Present in the following documents:
  • Main text
  • elife-85837.pdf
View BVdb publication page



Autophagy-lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease.

Scientific Reports
Adams, Jessie J; Feuerborn, Melissa M; Molina, Joshua A JA; Wilden, Alexa R AR; Adhikari, Babita B; Budden, Theodore T; Lee, Stella Y SY
Publication Date: 2019-01-17

Variant appearance in text: SNCA: Q79L
PubMed Link: 30655561
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_36379.pdf
View BVdb publication page