PSEN1 c.262_263delinsTG ;(p.P88C)

Variant ID: 14-73637679-CC-TG

NM_000021.3(PSEN1):c.262_263delinsTG;(p.P88C)

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:

Binding of longer Aβ to transmembrane domain 1 of presenilin 1 impacts on Aβ42 generation.

Molecular Neurodegeneration
Ohki, Yu Y; Shimada, Naoaki N; Tominaga, Aya A; Osawa, Satoko S; Higo, Takuya T; Yokoshima, Satoshi S; Fukuyama, Tohru T; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2014-01-13

Variant appearance in text: PS1: P88C
PubMed Link: 24410857
Variant Present in the following documents:
  • Main text
  • 1750-1326-9-7.pdf
View BVdb publication page