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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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