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PSEN1 c.577_579delinsTGT ;(p.V193C)
Variant ID: 14-73659380-GTG-TGT
NM_000021.3(
PSEN1
):c.577_579delinsTGT;(p.V193C)
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:
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: V193C
PubMed Link:
26818522
Variant Present in the following documents:
Main text
View BVdb publication page