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LRRK2 c.6880G>A ;(p.G2294R)
Variant ID: 12-40753098-G-A
NM_198578.3(
LRRK2
):c.6880G>A;(p.G2294R)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
LRRK2 Structure-Based Activation Mechanism and Pathogenesis.
Biomolecules
Zhang, Xiaojuan X; Kortholt, Arjan A
Publication Date: 2023-03-28
Variant appearance in text: LRRK2: G2294R
PubMed Link:
37189360
Variant Present in the following documents:
Main text
biomolecules-13-00612.pdf
View BVdb publication page
Is Glial Dysfunction the Key Pathogenesis of LRRK2-Linked Parkinson's Disease?
Biomolecules
Iseki, Tatou T; Imai, Yuzuru Y; Hattori, Nobutaka N
Publication Date: 2023-01-15
Variant appearance in text: LRRK2: G2294R
PubMed Link:
36671564
Variant Present in the following documents:
Main text
biomolecules-13-00178.pdf
View BVdb publication page
Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.
Cells
Goveas, Liesel L; Mutez, Eugénie E; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2021-04-22
Variant appearance in text: N/A
PubMed Link:
33922322
Variant Present in the following documents:
View BVdb publication page
A Novel LRRK2 Variant p.G2294R in the WD40 Domain Identified in Familial Parkinson's Disease Affects LRRK2 Protein Levels.
International Journal Of Molecular Sciences
Ogata, Jun J; Hirao, Kentaro K; Nishioka, Kenya K; Hayashida, Arisa A; Li, Yuanzhe Y; Yoshino, Hiroyo H; Shimizu, Soichiro S; Hattori, Nobutaka N; Imai, Yuzuru Y
Publication Date: 2021-04-02
Variant appearance in text: LRRK2: 6880G>A; G2294R
PubMed Link:
33918221
Variant Present in the following documents:
Main text
View BVdb publication page