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PSEN1 c.856_858delinsTGG ;(p.L286W)
Variant ID: 14-73664825-CTC-TGG
NM_000021.3(
PSEN1
):c.856_858delinsTGG;(p.L286W)
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:
Separation of presenilin function in amyloid beta-peptide generation and endoproteolysis of Notch.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Kulic, L L; Walter, J J; Multhaup, G G; Teplow, D B DB; Baumeister, R R; Romig, H H; Capell, A A; Steiner, H H; Haass, C C
Publication Date: 2000-05-23
Variant appearance in text: PS1: L286W
PubMed Link:
10811883
Variant Present in the following documents:
Main text
View BVdb publication page