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PSEN1 c.1304T>G ;(p.L435R)
Variant ID: 14-73685897-T-G
NM_000021.3(
PSEN1
):c.1304T>G;(p.L435R)
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:
A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.
The Journal Of Biological Chemistry
Heilig, Elizabeth A EA; Xia, Weiming W; Shen, Jie J; Kelleher, Raymond J RJ
Publication Date: 2010-07-16
Variant appearance in text: PS1: L435R
PubMed Link:
20460383
Variant Present in the following documents:
Main text
View BVdb publication page
Structural and Functional Determinants of gamma-Secretase, an Intramembrane Protease Implicated in Alzheimer's Disease.
Current Genomics
Fraering, Patrick C PC
Publication Date: 2007-12
Variant appearance in text: PS1: L435R
PubMed Link:
19415127
Variant Present in the following documents:
Main text
CG-8-531.pdf
View BVdb publication page