LRRK2 c.4879T>G ;(p.S1627A)

Variant ID: 12-40713841-T-G

NM_198578.3(LRRK2):c.4879T>G;(p.S1627A)

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:

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: LRRK2: S1627A
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page


Parkinson-Related LRRK2 Mutation R1628P Enables Cdk5 Phosphorylation of LRRK2 and Upregulates Its Kinase Activity.

Plos One
Shu, Yang Y; Ming, Jie J; Zhang, Pei P; Wang, Qingzhi Q; Jiao, Fengjuan F; Tian, Bo B
Publication Date: 2016

Variant appearance in text: LRRK2: S1627A
PubMed Link: 26930193
Variant Present in the following documents:
  • Main text
  • pone.0149739.pdf
View BVdb publication page