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LRRK2 c.3538_3539delinsAC ;(p.L1180T)
Variant ID: 12-40696632-TT-AC
NM_198578.3(
LRRK2
):c.3538_3539delinsAC;(p.L1180T)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Dictyostelium discoideum as a Model for Investigating Neurodegenerative Diseases.
Frontiers In Cellular Neuroscience
Haver, Holly N HN; Scaglione, K Matthew KM
Publication Date: 2021
Variant appearance in text: LRRK2: L1180T
PubMed Link:
34776869
Variant Present in the following documents:
Main text
fncel-15-759532.pdf
View BVdb publication page
Structural biology of the LRRK2 GTPase and kinase domains: implications for regulation.
Frontiers In Molecular Neuroscience
Gilsbach, Bernd K BK; Kortholt, Arjan A
Publication Date: 2014
Variant appearance in text: LRRK2: Leu1180Thr
PubMed Link:
24847205
Variant Present in the following documents:
Main text
fnmol-07-00032.pdf
View BVdb publication page
Roco kinase structures give insights into the mechanism of Parkinson disease-related leucine-rich-repeat kinase 2 mutations.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Gilsbach, Bernd K BK; Ho, Franz Y FY; Vetter, Ingrid R IR; van Haastert, Peter J M PJ; Wittinghofer, Alfred A; Kortholt, Arjan A
Publication Date: 2012-06-26
Variant appearance in text: LRRK2: L1180T
PubMed Link:
22689969
Variant Present in the following documents:
Main text
View BVdb publication page