LRRK2 c.4041A>C ;(p.K1347N)

Variant ID: 12-40702350-A-C

NM_198578.3(LRRK2):c.4041A>C;(p.K1347N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Sequential screening nominates the Parkinson's disease associated kinase LRRK2 as a regulator of Clathrin-mediated endocytosis.

Neurobiology Of Disease
Heaton, George R GR; Landeck, Natalie N; Mamais, Adamantios A; Nalls, Mike A MA; Nixon-Abell, Jonathon J; Kumaran, Ravindran R; Beilina, Alexandra A; Pellegrini, Laura L; Li, Yan Y; , ; Harvey, Kirsten K; Cookson, Mark R MR
Publication Date: 2020-07

Variant appearance in text: LRRK2: K1347N
PubMed Link: 32434048
Variant Present in the following documents:
  • Main text
View BVdb publication page