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LRRK2 c.7033_7034inv ;(p.S2345D)
Variant ID: 12-40757208-TC-GA
NM_198578.3(
LRRK2
):c.7033_7034inv;(p.S2345D)
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:
Structural basis for Parkinson's disease-linked LRRK2's binding to microtubules.
Nature Structural & Molecular Biology
Snead, David M DM; Matyszewski, Mariusz M; Dickey, Andrea M AM; Lin, Yu Xuan YX; Leschziner, Andres E AE; Reck-Peterson, Samara L SL
Publication Date: 2022-12-12
Variant appearance in text: LRRK2: S2345D
PubMed Link:
36510024
Variant Present in the following documents:
Main text
41594_2022_863_MOESM3_ESM.pdf
41594_2022_Article_863.pdf
View BVdb publication page
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: S2345D
PubMed Link:
30635421
Variant Present in the following documents:
Main text
pnas.201817889.pdf
pnas.1817889116.sapp.pdf
View BVdb publication page