PSEN1 c.1192_1194delinsTGT ;(p.A398C)

Variant ID: 14-73683896-GCA-TGT

NM_000021.3(PSEN1):c.1192_1194delinsTGT;(p.A398C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Contribution of the γ-secretase subunits to the formation of catalytic pore of presenilin 1 protein.

The Journal Of Biological Chemistry
Takeo, Koji K; Watanabe, Naoto N; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2012-07-27

Variant appearance in text: PS1: A398C
PubMed Link: 22689582
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: A398C
PubMed Link: 17108181
Variant Present in the following documents:
  • Main text
View BVdb publication page