Bibliome.ai browser hg19
Search
About
Stats
FAQ
PSEN1 c.298_299delinsTG ;(p.I100C)
Variant ID: 14-73637715-AT-TG
NM_000021.3(
PSEN1
):c.298_299delinsTG;(p.I100C)
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:
Activation of γ-Secretase Trimming Activity by Topological Changes of Transmembrane Domain 1 of Presenilin 1.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Cai, Tetsuo T; Yonaga, Masahiro M; Tomita, Taisuke T
Publication Date: 2017-12-13
Variant appearance in text: PS1: I100C
PubMed Link:
29118109
Variant Present in the following documents:
Main text
View BVdb publication page
Cooperative roles of hydrophilic loop 1 and the C-terminus of presenilin 1 in the substrate-gating mechanism of γ-secretase.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Takagi-Niidome, Shizuka S; Sasaki, Tomoki T; Osawa, Satoko S; Sato, Takeshi T; Morishima, Kanan K; Cai, Tetsuo T; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2015-02-11
Variant appearance in text: PS1: I100C
PubMed Link:
25673856
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: I100C
PubMed Link:
21106832
Variant Present in the following documents:
Main text
View BVdb publication page