LRRK2 c.233A>T ;(p.Q78L)

Variant ID: 12-40619438-A-T

NM_198578.3(LRRK2):c.233A>T;(p.Q78L)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Rab32 interacts with SNX6 and affects retromer-dependent Golgi trafficking.

Plos One
Waschbüsch, Dieter D; Hübel, Nicole N; Ossendorf, Edith E; Lobbestael, Evy E; Baekelandt, Veerle V; Lindsay, Andrew J AJ; McCaffrey, Mary W MW; Khan, Amir R AR; Barnekow, Angelika A
Publication Date: 2019

Variant appearance in text: LRRK2: Q78L
PubMed Link: 30640902
Variant Present in the following documents:
  • Main text
  • pone.0208889.pdf
View BVdb publication page