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PSEN1 c.1337A>G ;(p.Y446C)
Variant ID: 14-73685930-A-G
NM_000021.3(
PSEN1
):c.1337A>G;(p.Y446C)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Contribution of the γ-secretase subunits to the formation of catalytic pore of presenilin 1 protein.
The Journal Of Biological Chemistry
Takeo, Koji K; Watanabe, Naoto N; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2012-07-27
Variant appearance in text: PS1: Y446C
PubMed Link:
22689582
Variant Present in the following documents:
Main text
View BVdb publication page
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: Y446C
PubMed Link:
21531718
Variant Present in the following documents:
Main text
View BVdb publication page
The C-terminal PAL motif and transmembrane domain 9 of presenilin 1 are involved in the formation of the catalytic pore of the gamma-secretase.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Sato, Chihiro C; Takagi, Shizuka S; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2008-06-11
Variant appearance in text: PS1: Y446C
PubMed Link:
18550769
Variant Present in the following documents:
Main text
View BVdb publication page