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LRRK2 c.88_89delinsGC ;(p.K30A)
Variant ID: 12-40619021-AA-GC
NM_198578.3(
LRRK2
):c.88_89delinsGC;(p.K30A)
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:
The ubiquitin E3 ligase CHIP promotes proteasomal degradation of the serine/threonine protein kinase PINK1 during staurosporine-induced cell death.
The Journal Of Biological Chemistry
Yoo, Lang L; Chung, Kwang Chul KC
Publication Date: 2018-01-26
Variant appearance in text: LRRK2: K30A
PubMed Link:
29242192
Variant Present in the following documents:
Main text
View BVdb publication page
Redox regulation of the stability of the SUMO protease SENP3 via interactions with CHIP and Hsp90.
The Embo Journal
Yan, Shan S; Sun, Xuxu X; Xiang, Binggang B; Cang, Hui H; Kang, Xunlei X; Chen, Yuying Y; Li, Hui H; Shi, Guiying G; Yeh, Edward T H ET; Wang, Beilei B; Wang, Xiangrui X; Yi, Jing J
Publication Date: 2010-11-17
Variant appearance in text: LRRK2: K30A
PubMed Link:
20924358
Variant Present in the following documents:
Main text
View BVdb publication page
Regulation of LRRK2 stability by the E3 ubiquitin ligase CHIP.
Plos One
Ding, Xiaodong X; Goldberg, Matthew S MS
Publication Date: 2009-06-17
Variant appearance in text: LRRK2: K30A
PubMed Link:
19536328
Variant Present in the following documents:
Main text
pone.0005949.pdf
View BVdb publication page
CHIP regulates leucine-rich repeat kinase-2 ubiquitination, degradation, and toxicity.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Ko, Han Seok HS; Bailey, Rachel R; Smith, Wanli W WW; Liu, Zhaohui Z; Shin, Joo-Ho JH; Lee, Yun-Il YI; Zhang, Yong-Jie YJ; Jiang, Haibing H; Ross, Christopher A CA; Moore, Darren J DJ; Patterson, Cam C; Petrucelli, Leonard L; Dawson, Ted M TM; Dawson, Valina L VL
Publication Date: 2009-02-24
Variant appearance in text: LRRK2: K30A
PubMed Link:
19196961
Variant Present in the following documents:
Main text
View BVdb publication page