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LRRK2 c.236A>T ;(p.Q79L)
Variant ID: 12-40619441-A-T
NM_198578.3(
LRRK2
):c.236A>T;(p.Q79L)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Parkinson disease-associated Leucine-rich repeat kinase regulates UNC-104-dependent axonal transport of Arl8-positive vesicles in Drosophila.
Iscience
Inoshita, Tsuyoshi T; Liu, Jun-Yi JY; Taniguchi, Daisuke D; Ishii, Ryota R; Shiba-Fukushima, Kahori K; Hattori, Nobutaka N; Imai, Yuzuru Y
Publication Date: 2022-12-22
Variant appearance in text: LRRK2: Q79L
PubMed Link:
36404922
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
The Emerging Role of Rab5 in Membrane Receptor Trafficking and Signaling Pathways.
Biochemistry Research International
Yuan, Wanqiong W; Song, Chunli C
Publication Date: 2020
Variant appearance in text: LRRK2: Q79L
PubMed Link:
32104603
Variant Present in the following documents:
Main text
BRI2020-4186308.pdf
View BVdb publication page
Rabs in Signaling and Embryonic Development.
International Journal Of Molecular Sciences
Nassari, Sonya S; Del Olmo, Tomas T; Jean, Steve S
Publication Date: 2020-02-05
Variant appearance in text: LRRK2: Q79L
PubMed Link:
32033485
Variant Present in the following documents:
Main text
View BVdb publication page
This Is the End: Regulation of Rab7 Nucleotide Binding in Endolysosomal Trafficking and Autophagy.
Frontiers In Cell And Developmental Biology
Stroupe, Christopher C
Publication Date: 2018
Variant appearance in text: LRRK2: Q79L
PubMed Link:
30333976
Variant Present in the following documents:
Main text
View BVdb publication page
Activity-dependent bulk endocytosis proteome reveals a key presynaptic role for the monomeric GTPase Rab11.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Kokotos, A C AC; Peltier, J J; Davenport, E C EC; Trost, M M; Cousin, M A MA
Publication Date: 2018-10-23
Variant appearance in text: LRRK2: Q79L
PubMed Link:
30301801
Variant Present in the following documents:
pnas.201809189.pdf
View BVdb publication page
Coordinate Regulation of Neurite Outgrowth by LRRK2 and Its Interactor, Rab5.
Experimental Neurobiology
Heo, Hye Young HY; Kim, Kwang-Soo KS; Seol, Wongi W
Publication Date: 2010-09
Variant appearance in text: LRRK2: Q79L
PubMed Link:
22110348
Variant Present in the following documents:
Main text
en-19-97.pdf
View BVdb publication page
Leucine-rich repeat kinase LRRK1 regulates endosomal trafficking of the EGF receptor.
Nature Communications
Hanafusa, Hiroshi H; Ishikawa, Kouki K; Kedashiro, Shin S; Saigo, Tsukasa T; Iemura, Shun-Ichiro S; Natsume, Tohru T; Komada, Masayuki M; Shibuya, Hiroshi H; Nara, Atsuki A; Matsumoto, Kunihiro K
Publication Date: 2011-01-18
Variant appearance in text: LRRK2: Q79L
PubMed Link:
21245839
Variant Present in the following documents:
Main text
ncomms1161.pdf
View BVdb publication page