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SNCA c.239A>G ;(p.K80R)
Variant ID: 4-90743464-T-C
NM_000345.3(
SNCA
):c.239A>G;(p.K80R)
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:
The ER retention protein RER1 promotes alpha-synuclein degradation via the proteasome.
Plos One
Park, Hyo-Jin HJ; Ryu, Daniel D; Parmar, Mayur M; Giasson, Benoit I BI; McFarland, Nikolaus R NR
Publication Date: 2017
Variant appearance in text: SNCA: K80R
PubMed Link:
28877262
Variant Present in the following documents:
Main text
pone.0184262.pdf
View BVdb publication page