PSEN1 c.706_707delinsTC ;(p.V236S)

Variant ID: 14-73659509-GT-TC

NM_000021.3(PSEN1):c.706_707delinsTC;(p.V236S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

The Journal Of Biological Chemistry
Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ
Publication Date: 2021

Variant appearance in text: PS1: V236S
PubMed Link: 33571524
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Conformational Dynamics of Transmembrane Domain 3 of Presenilin 1 Is Associated with the Trimming Activity of γ-Secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Cai, Tetsuo T; Morishima, Kanan K; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Tomita, Taisuke T
Publication Date: 2019-10-23

Variant appearance in text: PS1: V236S
PubMed Link: 31527118
Variant Present in the following documents:
  • Main text
View BVdb publication page