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PSEN1 c.736_738delinsTGT ;(p.A246C)
Variant ID: 14-73659539-GCG-TGT
NM_000021.3(
PSEN1
):c.736_738delinsTGT;(p.A246C)
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:
Phenylpiperidine-type γ-secretase modulators target the transmembrane domain 1 of presenilin 1.
The Embo Journal
Ohki, Yu Y; Higo, Takuya T; Uemura, Kengo K; Shimada, Naoaki N; Osawa, Satoko S; Berezovska, Oksana O; Yokoshima, Satoshi S; Fukuyama, Tohru T; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2011-10-14
Variant appearance in text: PS1: A246C
PubMed Link:
22002539
Variant Present in the following documents:
Main text
View BVdb publication page
Participation of transmembrane domain 1 of presenilin 1 in the catalytic pore structure of the γ-secretase.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Takagi, Shizuka S; Tominaga, Aya A; Sato, Chihiro C; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2010-11-24
Variant appearance in text: PS1: A246C
PubMed Link:
21106832
Variant Present in the following documents:
Main text
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: A246C
PubMed Link:
17108181
Variant Present in the following documents:
Main text
View BVdb publication page