APP c.413A>G ;(p.Q138R)

Variant ID: 21-27425607-T-C

NM_000484.3(APP):c.413A>G;(p.Q138R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cellular and genetic drivers of RNA editing variation in the human brain.

Nature Communications
Cuddleston, Winston H WH; Li, Junhao J; Fan, Xuanjia X; Kozenkov, Alexey A; Lalli, Matthew M; Khalique, Shahrukh S; Dracheva, Stella S; Mukamel, Eran A EA; Breen, Michael S MS
Publication Date: 2022-05-30

Variant appearance in text: APP: 413A>G
PubMed Link: 35637184
Variant Present in the following documents:
  • 41467_2022_30531_MOESM5_ESM.xlsx, sheet 3
  • 41467_2022_30531_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Frontiers In Neuroscience
Ibanez, Laura L; Dube, Umber U; Davis, Albert A AA; Fernandez, Maria V MV; Budde, John J; Cooper, Breanna B; Diez-Fairen, Monica M; Ortega-Cubero, Sara S; Pastor, Pau P; Perlmutter, Joel S JS; Cruchaga, Carlos C; Benitez, Bruno A BA
Publication Date: 2018

Variant appearance in text: APP: Q138R
PubMed Link: 29692703
Variant Present in the following documents:
  • Main text
  • fnins-12-00230.pdf
View BVdb publication page