PSEN1 c.900A>T ;(p.E300D)

Variant ID: 14-73673125-A-T

NM_000021.3(PSEN1):c.900A>T;(p.E300D)

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:

Three-amino acid spacing of presenilin endoproteolysis suggests a general stepwise cleavage of gamma-secretase-mediated intramembrane proteolysis.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Fukumori, Akio A; Fluhrer, Regina R; Steiner, Harald H; Haass, Christian C
Publication Date: 2010-06-09

Variant appearance in text: PS1: E300D
PubMed Link: 20534834
Variant Present in the following documents:
  • Main text
View BVdb publication page