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