PSEN1 c.874_875delinsGA ;(p.M292E)

Variant ID: 14-73673099-AT-GA

NM_000021.3(PSEN1):c.874_875delinsGA;(p.M292E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Oncotarget
Grigorenko, Anastasia P AP; Moliaka, Youri K YK; Plotnikova, Olga V OV; Smirnov, Alexander A; Nikishina, Vera A VA; Goltsov, Andrey Y AY; Gusev, Fedor F; Andreeva, Tatiana V TV; Nelson, Omar O; Bezprozvanny, Ilya I; Rogaev, Evgeny I EI
Publication Date: 2017-10-10

Variant appearance in text: PSEN1: M292E
PubMed Link: 29137240
Variant Present in the following documents:
  • Main text
  • oncotarget-08-82006.pdf
View BVdb publication page



Structural and Functional Determinants of gamma-Secretase, an Intramembrane Protease Implicated in Alzheimer's Disease.

Current Genomics
Fraering, Patrick C PC
Publication Date: 2007-12

Variant appearance in text: PS1: M292E
PubMed Link: 19415127
Variant Present in the following documents:
  • Main text
  • CG-8-531.pdf
View BVdb publication page