PSEN1 c.1147_1149delinsAAC ;(p.L383N)

Variant ID: 14-73683851-TTG-AAC

NM_000021.3(PSEN1):c.1147_1149delinsAAC;(p.L383N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

The Journal Of Biological Chemistry
Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ
Publication Date: 2021

Variant appearance in text: PS1: L383N
PubMed Link: 33571524
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page