PSEN1 c.1180G>T ;(p.G394C)

Variant ID: 14-73683884-G-T

NM_000021.3(PSEN1):c.1180G>T;(p.G394C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.

The Journal Of Biological Chemistry
Nelson, Omar O; Supnet, Charlene C; Tolia, Alexandra A; Horré, Katrien K; De Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2011-06-24

Variant appearance in text: PS1: G394C
PubMed Link: 21531718
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: G394C
PubMed Link: 17108181
Variant Present in the following documents:
  • Main text
View BVdb publication page