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LRRK2 c.172A>C ;(p.K58Q)
Variant ID: 12-40619377-A-C
NM_198578.3(
LRRK2
):c.172A>C;(p.K58Q)
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:
Structural Basis for Rab8a Recruitment of RILPL2 via LRRK2 Phosphorylation of Switch 2.
Structure (London, England : 1993)
Waschbüsch, Dieter D; Purlyte, Elena E; Pal, Prosenjit P; McGrath, Emma E; Alessi, Dario R DR; Khan, Amir R AR
Publication Date: 2020-04-07
Variant appearance in text: LRRK2: K58Q
PubMed Link:
32017888
Variant Present in the following documents:
Main text
mmc2.pdf
View BVdb publication page