APP c.860T>G ;(p.V287G)

Variant ID: 21-27394161-A-C

NM_000484.3(APP):c.860T>G;(p.V287G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Novotny, Brenna C BC; Fernandez, Maria Victoria MV; Wang, Ciyang C; Budde, John P JP; Bergmann, Kristy K; Eteleeb, Abdallah M AM; Bradley, Joseph J; Webster, Carol C; Ebl, Curtis C; Norton, Joanne J; Gentsch, Jen J; Dube, Umber U; Wang, Fengxian F; Morris, John C JC; Bateman, Randall J RJ; Perrin, Richard J RJ; McDade, Eric E; Xiong, Chengjie C; Chhatwal, Jasmeer J; , ; , ; , ; Goate, Alison A; Farlow, Martin M; Schofield, Peter P; Chui, Helena H; Karch, Celeste M CM; Cruchaga, Carlos C; Benitez, Bruno A BA; Harari, Oscar O
Publication Date: 2022-10-17

Variant appearance in text: APP: V287G
PubMed Link: 36251323
Variant Present in the following documents:
  • NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx, sheet 1
View BVdb publication page



Association of Acquired and Heritable Factors With Intergenerational Differences in Age at Symptomatic Onset of Alzheimer Disease Between Offspring and Parents With Dementia.

Jama Network Open
Day, Gregory S GS; Cruchaga, Carlos C; Wingo, Thomas T; Schindler, Suzanne E SE; Coble, Dean D; Morris, John C JC
Publication Date: 2019-10-02

Variant appearance in text: APP: V287G
PubMed Link: 31617930
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: V287G
PubMed Link: 31011484
Variant Present in the following documents:
  • Main text
  • ad-10-2-383.pdf
View BVdb publication page



The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

Plos Genetics
Benitez, Bruno A BA; Karch, Celeste M CM; Cai, Yefei Y; Jin, Sheng Chih SC; Cooper, Breanna B; Carrell, David D; Bertelsen, Sarah S; Chibnik, Lori L; Schneider, Julie A JA; Bennett, David A DA; , ; , ; Fagan, Anne M AM; Holtzman, David D; Morris, John C JC; Goate, Alison M AM; Cruchaga, Carlos C
Publication Date: 2013

Variant appearance in text: APP: V287G
PubMed Link: 23990795
Variant Present in the following documents:
  • Main text
View BVdb publication page