LRRK2 c.7567C>T ;(p.R2523*)

Variant ID: 12-40761550-C-T

NM_198578.3(LRRK2):c.7567C>T;(p.R2523*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic and Transcriptomic Determinants of Therapy Resistance and Immune Landscape Evolution during Anti-EGFR Treatment in Colorectal Cancer.

Cancer Cell
Woolston, Andrew A; Khan, Khurum K; Spain, Georgia G; Barber, Louise J LJ; Griffiths, Beatrice B; Gonzalez-Exposito, Reyes R; Hornsteiner, Lisa L; Punta, Marco M; Patil, Yatish Y; Newey, Alice A; Mansukhani, Sonia S; Davies, Matthew N MN; Furness, Andrew A; Sclafani, Francesco F; Peckitt, Clare C; Jiménez, Mirta M; Kouvelakis, Kyriakos K; Ranftl, Romana R; Begum, Ruwaida R; Rana, Isma I; Thomas, Janet J; Bryant, Annette A; Quezada, Sergio S; Wotherspoon, Andrew A; Khan, Nasir N; Fotiadis, Nikolaos N; Marafioti, Teresa T; Powles, Thomas T; Lise, Stefano S; Calvo, Fernando F; Guettler, Sebastian S; von Loga, Katharina K; Rao, Sheela S; Watkins, David D; Starling, Naureen N; Chau, Ian I; Sadanandam, Anguraj A; Cunningham, David D; Gerlinger, Marco M
Publication Date: 2019-07-08

Variant appearance in text: LRRK2: R2523X
PubMed Link: 31287991
Variant Present in the following documents:
  • mmc3.xlsx, sheet 22
View BVdb publication page



Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.

Jama Neurology
Blauwendraat, Cornelis C; Reed, Xylena X; Kia, Demis A DA; Gan-Or, Ziv Z; Lesage, Suzanne S; Pihlstrøm, Lasse L; Guerreiro, Rita R; Gibbs, J Raphael JR; Sabir, Marya M; Ahmed, Sarah S; Ding, Jinhui J; Alcalay, Roy N RN; Hassin-Baer, Sharon S; Pittman, Alan M AM; Brooks, Janet J; Edsall, Connor C; Hernandez, Dena G DG; Chung, Sun Ju SJ; Goldwurm, Stefano S; Toft, Mathias M; Schulte, Claudia C; Bras, Jose J; Wood, Nicholas W NW; Brice, Alexis A; Morris, Huw R HR; Scholz, Sonja W SW; Nalls, Mike A MA; Singleton, Andrew B AB; Cookson, Mark R MR; ,
Publication Date: 2018-11-01

Variant appearance in text: LRRK2: R2523X
PubMed Link: 30039155
Variant Present in the following documents:
  • Main text
View BVdb publication page