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PSEN1 c.166_168delinsTGT ;(p.Q56C)
Variant ID: 14-73637583-CAG-TGT
NM_000021.3(
PSEN1
):c.166_168delinsTGT;(p.Q56C)
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:
Presenilins regulate the cellular activity of ryanodine receptors differentially through isotype-specific N-terminal cysteines.
Experimental Neurology
Payne, Andrew J AJ; Gerdes, Bryan C BC; Naumchuk, Yuliya Y; McCalley, Audrey E AE; Kaja, Simon S; Koulen, Peter P
Publication Date: 2013-12
Variant appearance in text: PS1: Q56C
PubMed Link:
24029002
Variant Present in the following documents:
Main text
View BVdb publication page