PSEN1 c.1096_1097delinsGC ;(p.S366A)

Variant ID: 14-73678617-AG-GC

NM_000021.3(PSEN1):c.1096_1097delinsGC;(p.S366A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: S182: S366A
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: S182: S366A
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
View BVdb publication page



Phosphorylated Presenilin 1 decreases β-amyloid by facilitating autophagosome-lysosome fusion.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bustos, Victor V; Pulina, Maria V MV; Bispo, Ashley A; Lam, Alison A; Flajolet, Marc M; Gorelick, Fred S FS; Greengard, Paul P
Publication Date: 2017-07-03

Variant appearance in text: PS1: S366A
PubMed Link: 28533369
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathogenic PS1 phosphorylation at Ser367.

Elife
Maesako, Masato M; Horlacher, Jana J; Zoltowska, Katarzyna M KM; Kastanenka, Ksenia V KV; Kara, Eleanna E; Svirsky, Sarah S; Keller, Laura J LJ; Li, Xuejing X; Hyman, Bradley T BT; Bacskai, Brian J BJ; Berezovska, Oksana O
Publication Date: 2017-01-30

Variant appearance in text: PS1: S366A
PubMed Link: 28132667
Variant Present in the following documents:
  • Main text
  • elife-19720.pdf
View BVdb publication page