LRRK2 c.1075T>A ;(p.W359R)

Variant ID: 12-40645150-T-A

NM_198578.3(LRRK2):c.1075T>A;(p.W359R)

This variant was identified in 2 publications

View GRCh38 version.



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

Publications:

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: LRRK2: W359R
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page


Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.

Movement Disorders Clinical Practice
Gustavsson, Emil K EK; Trinh, Joanne J; McKenzie, Marna M; Bortnick, Stephanie S; Petersen, Maria Skaalum MS; Farrer, Matthew J MJ; Aasly, Jan O JO
Publication Date: 2017

Variant appearance in text: LRRK2: W359R
PubMed Link: 30363439
Variant Present in the following documents:
  • Main text
View BVdb publication page