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