APP c.272C>T ;(p.P91L)

Variant ID: 21-27462342-G-A

NM_000484.3(APP):c.272C>T;(p.P91L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: APP: 272C>T; P91L
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Alzheimer'S Research & Therapy
Perrone, Federica F; Bjerke, Maria M; Hens, Elisabeth E; Sieben, Anne A; Timmers, Maarten M; De Roeck, Arne A; Vandenberghe, Rik R; Sleegers, Kristel K; Martin, Jean-Jacques JJ; De Deyn, Peter P PP; Engelborghs, Sebastiaan S; van der Zee, Julie J; Van Broeckhoven, Christine C; Cacace, Rita R; ,
Publication Date: 2020-09-11

Variant appearance in text: APP: P91L
PubMed Link: 32917274
Variant Present in the following documents:
  • Main text
  • 13195_2020_Article_676.pdf
View BVdb publication page