APP c.2005G>C ;(p.V669L)

Variant ID: 21-27269944-C-G

NM_000484.3(APP):c.2005G>C;(p.V669L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.

Frontiers In Aging Neuroscience
Liu, Yingzi Y; Xiao, Xuewen X; Liu, Hui H; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Liu, Xixi X; Bi, Xiang-Yun XY; Xu, Tianyan T; Zhu, Yuan Y; Yang, Qijie Q; Zhang, Sizhe S; Hao, Xiaoli X; Zhang, Weiwei W; Wang, Junling J; Jiao, Bin B; Shen, Lu L
Publication Date: 2022

Variant appearance in text: APP: V669L
PubMed Link: 36313020
Variant Present in the following documents:
  • Main text
  • fnagi-14-1013295.pdf
View BVdb publication page



Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations.

International Journal Of Molecular Sciences
Kalampokini, Stefania S; Georgouli, Despoina D; Patrikiou, Eleni E; Provatas, Antonios A; Valotassiou, Varvara V; Georgoulias, Panagiotis P; Spanaki, Cleanthe C; Hadjigeorgiou, Georgios M GM; Xiromerisiou, Georgia G
Publication Date: 2021-11-16

Variant appearance in text: APP: Val669Leu
PubMed Link: 34830236
Variant Present in the following documents:
  • ijms-22-12355.pdf
View BVdb publication page



The Links between Cardiovascular Diseases and Alzheimer's Disease.

Current Neuropharmacology
Leszek, Jerzy J; Mikhaylenko, Elizaveta V EV; Belousov, Dmitrii M DM; Koutsouraki, Efrosini E; Szczechowiak, Katarzyna K; Kobusiak-Prokopowicz, Małgorzata M; Mysiak, Andrzej A; Diniz, Breno Satler BS; Somasundaram, Siva G SG; Kirkland, Cecil E CE; Aliev, Gjumrakch G
Publication Date: 2021

Variant appearance in text: APP: V669L
PubMed Link: 32727331
Variant Present in the following documents:
  • Main text
  • CN-19-152.pdf
View BVdb publication page



Central and Peripheral Metabolic Defects Contribute to the Pathogenesis of Alzheimer's Disease: Targeting Mitochondria for Diagnosis and Prevention.

Antioxidants & Redox Signaling
Peng, Yunhua Y; Gao, Peipei P; Shi, Le L; Chen, Lei L; Liu, Jiankang J; Long, Jiangang J
Publication Date: 2020-06-01

Variant appearance in text: APP: V669L
PubMed Link: 32050773
Variant Present in the following documents:
  • Main text
View BVdb publication page



APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences
Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019-09-25

Variant appearance in text: APP: 2005G>C; V669L
PubMed Link: 31557888
Variant Present in the following documents:
  • Main text
  • ijms-20-04757.pdf
View BVdb publication page