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PSEN1 c.1292_1293delinsAC ;(p.A431D)
Variant ID: 14-73685885-CA-AC
NM_000021.3(
PSEN1
):c.1292_1293delinsAC;(p.A431D)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Cadherins mediate both the association between PS1 and beta-catenin and the effects of PS1 on beta-catenin stability.
The Journal Of Biological Chemistry
Serban, Geo G; Kouchi, Zen Z; Baki, Lia L; Georgakopoulos, Anastasios A; Litterst, Claudia M CM; Shioi, Junichi J; Robakis, Nikolaos K NK
Publication Date: 2005-10-28
Variant appearance in text: PS1: A431D
PubMed Link:
16126725
Variant Present in the following documents:
Main text
View BVdb publication page
A presenilin-1/gamma-secretase cleavage releases the E-cadherin intracellular domain and regulates disassembly of adherens junctions.
The Embo Journal
Marambaud, Philippe P; Shioi, Junichi J; Serban, Geo G; Georgakopoulos, Anastasios A; Sarner, Shula S; Nagy, Vanja V; Baki, Lia L; Wen, Paul P; Efthimiopoulos, Spiros S; Shao, Zhiping Z; Wisniewski, Thomas T; Robakis, Nikolaos K NK
Publication Date: 2002-04-15
Variant appearance in text: PS1: A431D
PubMed Link:
11953314
Variant Present in the following documents:
Main text
View BVdb publication page