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PSEN1 c.1099_1100delinsGA ;(p.S367D)
Variant ID: 14-73678620-AG-GA
NM_000021.3(
PSEN1
):c.1099_1100delinsGA;(p.S367D)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Versatility of presenilin 1.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Frost, Georgia R GR; Wong, Eitan E; Li, Yue-Ming YM
Publication Date: 2017-07-03
Variant appearance in text: PS1: S367D
PubMed Link:
28645897
Variant Present in the following documents:
Main text
View BVdb publication page
Bidirectional regulation of Aβ levels by Presenilin 1.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Bustos, Victor V; Pulina, Maria V MV; Kelahmetoglu, Yildiz Y; Sinha, Subhash C SC; Gorelick, Fred S FS; Flajolet, Marc M; Greengard, Paul P
Publication Date: 2017-07-03
Variant appearance in text: PS1: S367D
PubMed Link:
28533411
Variant Present in the following documents:
Main text
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: S367D
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: S367D
PubMed Link:
28132667
Variant Present in the following documents:
Main text
elife-19720.pdf
View BVdb publication page