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PSEN1 c.478_480delinsTGT ;(p.K160C)
Variant ID: 14-73640413-AAG-TGT
NM_000021.3(
PSEN1
):c.478_480delinsTGT;(p.K160C)
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 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: K160C
PubMed Link:
31527118
Variant Present in the following documents:
Main text
View BVdb publication page