LRRK2 c.776C>A ;(p.A259E)

Variant ID: 12-40637421-C-A

NM_198578.3(LRRK2):c.776C>A;(p.A259E)

This variant was identified in 3 publications

View GRCh38 version.




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: A259E
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr
Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F
Publication Date: 2019-02-12

Variant appearance in text: LRRK2: A259E
PubMed Link: 30755224
Variant Present in the following documents:
  • 13046_2019_1066_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

Acta Neuropathologica
Pottier, Cyril C; Bieniek, Kevin F KF; Finch, NiCole N; van de Vorst, Maartje M; Baker, Matt M; Perkersen, Ralph R; Brown, Patricia P; Ravenscroft, Thomas T; van Blitterswijk, Marka M; Nicholson, Alexandra M AM; DeTure, Michael M; Knopman, David S DS; Josephs, Keith A KA; Parisi, Joseph E JE; Petersen, Ronald C RC; Boylan, Kevin B KB; Boeve, Bradley F BF; Graff-Radford, Neill R NR; Veltman, Joris A JA; Gilissen, Christian C; Murray, Melissa E ME; Dickson, Dennis W DW; Rademakers, Rosa R
Publication Date: 2015-07

Variant appearance in text: LRRK2: 776C>A; Ala259Glu; rs199557665
PubMed Link: 25943890
Variant Present in the following documents:
  • Main text
View BVdb publication page