LRRK2 c.7315C>A ;(p.L2439I)

Variant ID: 12-40758777-C-A

NM_198578.3(LRRK2):c.7315C>A;(p.L2439I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Genes
Vacchiano, Veria V; Bartoletti-Stella, Anna A; Rizzo, Giovanni G; Avoni, Patrizia P; Parchi, Piero P; Salvi, Fabrizio F; Liguori, Rocco R; Capellari, Sabina S
Publication Date: 2022-07-22

Variant appearance in text: LRRK2: 7315C>A; Leu2439Ile
PubMed Link: 35893043
Variant Present in the following documents:
  • genes-13-01306.pdf
View BVdb publication page



Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Molecular Neurodegeneration
Gialluisi, Alessandro A; Reccia, Mafalda Giovanna MG; Modugno, Nicola N; Nutile, Teresa T; Lombardi, Alessia A; Di Giovannantonio, Luca Giovanni LG; Pietracupa, Sara S; Ruggiero, Daniela D; Scala, Simona S; Gambardella, Stefano S; , ; Iacoviello, Licia L; Gianfrancesco, Fernando F; Acampora, Dario D; D'Esposito, Maurizio M; Simeone, Antonio A; Ciullo, Marina M; Esposito, Teresa T
Publication Date: 2021-06-21

Variant appearance in text: LRRK2: L2439I; rs72547983
PubMed Link: 34148545
Variant Present in the following documents:
  • 13024_2021_455_MOESM1_ESM.pdf
View BVdb publication page



Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology
Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K
Publication Date: 2019

Variant appearance in text: LRRK2: 7315C>A; L2439I
PubMed Link: 30886832
Variant Present in the following documents:
  • Table_2.xls, sheet 2
  • Table_2.xls, sheet 1
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: L2439I
PubMed Link: 30635421
Variant Present in the following documents:
  • Main text
  • pnas.1817889116.sapp.pdf
  • pnas.201817889.pdf
View BVdb publication page