LRRK2 c.5752_5753delinsGC ;(p.R1918A)

Variant ID: 12-40722257-AG-GC

NM_198578.3(LRRK2):c.5752_5753delinsGC;(p.R1918A)

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:

Roco kinase structures give insights into the mechanism of Parkinson disease-related leucine-rich-repeat kinase 2 mutations.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gilsbach, Bernd K BK; Ho, Franz Y FY; Vetter, Ingrid R IR; van Haastert, Peter J M PJ; Wittinghofer, Alfred A; Kortholt, Arjan A
Publication Date: 2012-06-26

Variant appearance in text: LRRK2: R1918A
PubMed Link: 22689969
Variant Present in the following documents:
  • Main text
View BVdb publication page