PSEN1 c.719A>G ;(p.Y240C)

Variant ID: 14-73659522-A-G

NM_000021.3(PSEN1):c.719A>G;(p.Y240C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2016-01-27

Variant appearance in text: PS1: Y240C
PubMed Link: 26818522
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allosteric regulation of γ-secretase activity by a phenylimidazole-type γ-secretase modulator.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Takeo, Koji K; Tanimura, Shun S; Shinoda, Takehiro T; Osawa, Satoko S; Zahariev, Ivan Krasmirov IK; Takegami, Naoki N; Ishizuka-Katsura, Yoshiko Y; Shinya, Naoko N; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Ohsawa, Noboru N; Kimura-Someya, Tomomi T; Shirouzu, Mikako M; Yokoshima, Satoshi S; Yokoyama, Shigeyuki S; Fukuyama, Tohru T; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2014-07-22

Variant appearance in text: PS1: Y240C
PubMed Link: 25009180
Variant Present in the following documents:
  • Main text
View BVdb publication page