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LRRK2 c.7180_7181delinsGA ;(p.R2394E)
Variant ID: 12-40757355-AG-GA
NM_198578.3(
LRRK2
):c.7180_7181delinsGA;(p.R2394E)
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:
Crystal structure of the WD40 domain dimer of LRRK2.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Pengfei P; Fan, Ying Y; Ru, Heng H; Wang, Li L; Magupalli, Venkat Giri VG; Taylor, Susan S SS; Alessi, Dario R DR; Wu, Hao H
Publication Date: 2019-01-29
Variant appearance in text: LRRK2: R2394E
PubMed Link:
30635421
Variant Present in the following documents:
Main text
pnas.1817889116.sapp.pdf
pnas.201817889.pdf
View BVdb publication page