PSEN1 c.1375_1377delinsTGT ;(p.Q459C)

Variant ID: 14-73685968-CAA-TGT

NM_000021.3(PSEN1):c.1375_1377delinsTGT;(p.Q459C)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The C-terminal PAL motif and transmembrane domain 9 of presenilin 1 are involved in the formation of the catalytic pore of the gamma-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Sato, Chihiro C; Takagi, Shizuka S; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2008-06-11

Variant appearance in text: PS1: Q459C
PubMed Link: 18550769
Variant Present in the following documents:
  • Main text
View BVdb publication page