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LRRK2 c.6056G>C ;(p.G2019A)
Variant ID: 12-40734203-G-C
NM_198578.3(
LRRK2
):c.6056G>C;(p.G2019A)
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:
Golgi Complex Dynamics and Its Implication in Prevalent Neurological Disorders.
Frontiers In Cell And Developmental Biology
Caracci, Mario O MO; Fuentealba, Luz M LM; Marzolo, MarĂa-Paz MP
Publication Date: 2019
Variant appearance in text: LRRK2: G2019A
PubMed Link:
31134199
Variant Present in the following documents:
Main text
fcell-07-00075.pdf
View BVdb publication page
G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization.
Human Molecular Genetics
Papkovskaia, Tatiana D TD; Chau, Kai-Yin KY; Inesta-Vaquera, Francisco F; Papkovsky, Dmitri B DB; Healy, Daniel G DG; Nishio, Koji K; Staddon, James J; Duchen, Michael R MR; Hardy, John J; Schapira, Anthony H V AH; Cooper, J Mark JM
Publication Date: 2012-10-01
Variant appearance in text: LRRK2: G2019A
PubMed Link:
22736029
Variant Present in the following documents:
Main text
dds244.pdf
View BVdb publication page