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PSEN1 c.1153_1154delinsTG ;(p.D385C)
Variant ID: 14-73683857-GA-TG
NM_000021.3(
PSEN1
):c.1153_1154delinsTG;(p.D385C)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.
The Journal Of Biological Chemistry
Nelson, Omar O; Supnet, Charlene C; Tolia, Alexandra A; Horré, Katrien K; De Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2011-06-24
Variant appearance in text: PS1: D385C
PubMed Link:
21531718
Variant Present in the following documents:
Main text
View BVdb publication page
Presenilin-1 acts via Id1 to regulate the function of muscle satellite cells in a gamma-secretase-independent manner.
Journal Of Cell Science
Ono, Yusuke Y; Gnocchi, Viola F VF; Zammit, Peter S PS; Nagatomi, Ryoichi R
Publication Date: 2009-12-15
Variant appearance in text: PS1: D385C
PubMed Link:
19920078
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: D385C
PubMed Link:
19415127
Variant Present in the following documents:
Main text
CG-8-531.pdf
View BVdb publication page
Structure of the catalytic pore of gamma-secretase probed by the accessibility of substituted cysteines.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Sato, Chihiro C; Morohashi, Yuichi Y; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2006-11-15
Variant appearance in text: PS1: D385C
PubMed Link:
17108181
Variant Present in the following documents:
Main text
View BVdb publication page