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PSEN1 c.706_708delinsTGT ;(p.V236C)
Variant ID: 14-73659509-GTG-TGT
NM_000021.3(
PSEN1
):c.706_708delinsTGT;(p.V236C)
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:
Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.
The Journal Of Biological Chemistry
Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ
Publication Date: 2021
Variant appearance in text: PS1: V236C
PubMed Link:
33571524
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Conformational Dynamics of Transmembrane Domain 3 of Presenilin 1 Is Associated with the Trimming Activity of γ-Secretase.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Cai, Tetsuo T; Morishima, Kanan K; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Tomita, Taisuke T
Publication Date: 2019-10-23
Variant appearance in text: PS1: V236C
PubMed Link:
31527118
Variant Present in the following documents:
Main text
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: V236C
PubMed Link:
26818522
Variant Present in the following documents:
Main text
View BVdb publication page