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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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