PSEN1 c.609G>T ;(p.W203C)

Variant ID: 14-73659412-G-T

NM_000021.3(PSEN1):c.609G>T;(p.W203C)

This variant was identified in 3 publications

View GRCh38 version.




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.pdf
  • pgen.1004704.s002.xlsx, sheet 1
View BVdb publication page