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PSEN1 c.609G>C ;(p.W203C)
Variant ID: 14-73659412-G-C
NM_000021.3(
PSEN1
):c.609G>C;(p.W203C)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
International Journal Of Molecular Sciences
Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2023-05-08
Variant appearance in text: PSEN1: Trp203Cys
PubMed Link:
37176125
Variant Present in the following documents:
ijms-24-08417.pdf
View BVdb publication page
Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2016-01-27
Variant appearance in text: PS1: W203C
PubMed Link:
26818522
Variant Present in the following documents:
Main text
View BVdb publication page
Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
Plos Genetics
Couthouis, Julien J; Raphael, Alya R AR; Daneshjou, Roxana R; Gitler, Aaron D AD
Publication Date: 2014-10
Variant appearance in text: PSEN1: W203C
PubMed Link:
25299611
Variant Present in the following documents:
Main text
pgen.1004704.s002.xlsx, sheet 1
pgen.1004704.pdf
View BVdb publication page