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.




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