APP c.1684G>A ;(p.V562I)

Variant ID: 21-27326907-C-T

NM_000484.3(APP):c.1684G>A;(p.V562I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: An APP Val551Met and a PSEN2 His169Asn.

International Journal Of Molecular Sciences
Bae, Heewon H; Shim, Kyu Hwan KH; Yoo, Jang J; Yang, Young-Soon YS; An, Seong Soo A SSA; Kang, Min-Ju MJ
Publication Date: 2023-04-18

Variant appearance in text: APP: V562I
PubMed Link: 37108607
Variant Present in the following documents:
  • Main text
  • ijms-24-07446.pdf
View BVdb publication page



Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease
Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM
Publication Date: 2020-06

Variant appearance in text: APP: V562I
PubMed Link: 32087291
Variant Present in the following documents:
  • Main text
  • NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2
  • NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
  • nihms-1588025.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: V562I
PubMed Link: 32050773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease
Bi, Christopher C; Bi, Stephanie S; Li, Bin B
Publication Date: 2019-04

Variant appearance in text: APP: V562I
PubMed Link: 31011484
Variant Present in the following documents:
  • Main text
  • ad-10-2-383.pdf
View BVdb publication page



Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.

Neurobiology Of Aging
Sassi, Celeste C; Guerreiro, Rita R; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Al-Sarraj, Safa S; Niblock, Michael M; Gallo, Jean-Marc JM; Adnan, Jihad J; Killick, Richard R; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; Bras, Jose J; , ; Morgan, Kevin K; Powell, John F JF; Singleton, Andrew A; Hardy, John J
Publication Date: 2014-12

Variant appearance in text: APP: 1684G>A; V562I; rs199586073
PubMed Link: 25104557
Variant Present in the following documents:
  • Main text
View BVdb publication page