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PSEN1 c.1324_1326delinsTGT ;(p.G442C)
Variant ID: 14-73685917-GGG-TGT
NM_000021.3(
PSEN1
):c.1324_1326delinsTGT;(p.G442C)
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:
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: G442C
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: G442C
PubMed Link:
18550769
Variant Present in the following documents:
Main text
View BVdb publication page