LRRK2 c.4330T>G ;(p.S1444A)

Variant ID: 12-40704245-T-G

NM_198578.3(LRRK2):c.4330T>G;(p.S1444A)

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:

Parkinson-related LRRK2 mutation R1441C/G/H impairs PKA phosphorylation of LRRK2 and disrupts its interaction with 14-3-3.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Muda, Kathrin K; Bertinetti, Daniela D; Gesellchen, Frank F; Hermann, Jennifer Sarah JS; von Zweydorf, Felix F; Geerlof, Arie A; Jacob, Anette A; Ueffing, Marius M; Gloeckner, Christian Johannes CJ; Herberg, Friedrich W FW
Publication Date: 2014-01-07

Variant appearance in text: LRRK2: S1444A
PubMed Link: 24351927
Variant Present in the following documents:
  • Main text
View BVdb publication page