Bibliome.ai browser hg19
Search
About
Stats
FAQ
PSEN1 c.361_362delinsTG ;(p.D121C)
Variant ID: 14-73640296-GA-TG
NM_000021.3(
PSEN1
):c.361_362delinsTG;(p.D121C)
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:
Cooperative roles of hydrophilic loop 1 and the C-terminus of presenilin 1 in the substrate-gating mechanism of γ-secretase.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Takagi-Niidome, Shizuka S; Sasaki, Tomoki T; Osawa, Satoko S; Sato, Takeshi T; Morishima, Kanan K; Cai, Tetsuo T; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2015-02-11
Variant appearance in text: PS1: D121C
PubMed Link:
25673856
Variant Present in the following documents:
Main text
View BVdb publication page