PSEN1 c.83_84delinsAG ;(p.S28K)

Variant ID: 14-73614810-GC-AG

NM_000021.3(PSEN1):c.83_84delinsAG;(p.S28K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Lysine 624 of the amyloid precursor protein (APP) is a critical determinant of amyloid β peptide length: support for a sequential model of γ-secretase intramembrane proteolysis and regulation by the amyloid β precursor protein (APP) juxtamembrane region.

The Journal Of Biological Chemistry
Kukar, Thomas L TL; Ladd, Thomas B TB; Robertson, Paul P; Pintchovski, Sean A SA; Moore, Brenda B; Bann, Maralyssa A MA; Ren, Zhao Z; Jansen-West, Karen K; Malphrus, Kim K; Eggert, Simone S; Maruyama, Hiroko H; Cottrell, Barbara A BA; Das, Pritam P; Basi, Guriqbal S GS; Koo, Edward H EH; Golde, Todd E TE
Publication Date: 2011-11-18

Variant appearance in text: PS1: S28K
PubMed Link: 21868378
Variant Present in the following documents:
  • Main text
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