LRRK2 c.2728_2730delinsGAC ;(p.S910D)

Variant ID: 12-40687385-TCA-GAC

NM_198578.3(LRRK2):c.2728_2730delinsGAC;(p.S910D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity.

The Journal Of Cell Biology
Stormo, Adrienne E D AED; Shavarebi, Farbod F; FitzGibbon, Molly M; Earley, Elizabeth M EM; Ahrendt, Hannah H; Lum, Lotus S LS; Verschueren, Erik E; Swaney, Danielle L DL; Skibinski, Gaia G; Ravisankar, Abinaya A; van Haren, Jeffrey J; Davis, Emily J EJ; Johnson, Jeffrey R JR; Von Dollen, John J; Balen, Carson C; Porath, Jacob J; Crosio, Claudia C; Mirescu, Christian C; Iaccarino, Ciro C; Dauer, William T WT; Nichols, R Jeremy RJ; Wittmann, Torsten T; Cox, Timothy C TC; Finkbeiner, Steve S; Krogan, Nevan J NJ; Oakes, Scott A SA; Hiniker, Annie A
Publication Date: 2022-04-04

Variant appearance in text: LRRK2: Ser910Asp
PubMed Link: 35266954
Variant Present in the following documents:
  • Main text
  • JCB_202010065.pdf
View BVdb publication page