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PSEN1 c.1249G>T ;(p.G417C)
Variant ID: 14-73685842-G-T
NM_000021.3(
PSEN1
):c.1249G>T;(p.G417C)
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: G417C
PubMed Link:
18550769
Variant Present in the following documents:
Main text
View BVdb publication page