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.




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