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LRRK2 c.4879_4881delinsGAC ;(p.S1627D)
Variant ID: 12-40713841-TCG-GAC
NM_198578.3(
LRRK2
):c.4879_4881delinsGAC;(p.S1627D)
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:
Parkinson-Related LRRK2 Mutation R1628P Enables Cdk5 Phosphorylation of LRRK2 and Upregulates Its Kinase Activity.
Plos One
Shu, Yang Y; Ming, Jie J; Zhang, Pei P; Wang, Qingzhi Q; Jiao, Fengjuan F; Tian, Bo B
Publication Date: 2016
Variant appearance in text: LRRK2: S1627D
PubMed Link:
26930193
Variant Present in the following documents:
Main text
pone.0149739.pdf
View BVdb publication page