APP c.1966T>G ;(p.S656A)

Variant ID: 21-27269983-A-C

NM_000484.3(APP):c.1966T>G;(p.S656A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: APP: S656A
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Dynamin-related protein 1 and mitochondrial fragmentation in neurodegenerative diseases.

Brain Research Reviews
Reddy, P Hemachandra PH; Reddy, Tejaswini P TP; Manczak, Maria M; Calkins, Marcus J MJ; Shirendeb, Ulziibat U; Mao, Peizhong P
Publication Date: 2011-06-24

Variant appearance in text: APP: Ser656Ala
PubMed Link: 21145355
Variant Present in the following documents:
  • Main text
View BVdb publication page