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PKD1 c.2746_2748delinsGAG ;(p.S916E)
Variant ID: 16-2164276-GCT-CTC
NM_001009944.2(
PKD1
):c.2746_2748delinsGAG;(p.S916E)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Protein kinase D interacts with neuronal nitric oxide synthase and phosphorylates the activatory residue serine 1412.
Plos One
Sánchez-Ruiloba, Lucía L; Aicart-Ramos, Clara C; García-Guerra, Lucía L; Pose-Utrilla, Julia J; Rodríguez-Crespo, Ignacio I; Iglesias, Teresa T
Publication Date: 2014
Variant appearance in text: PKD1: Ser916Glu
PubMed Link:
24740233
Variant Present in the following documents:
Main text
pone.0095191.pdf
View BVdb publication page
Protein kinase d regulates trafficking of dendritic membrane proteins in developing neurons.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Bisbal, Mariano M; Conde, Cecilia C; Donoso, Maribel M; Bollati, Flavia F; Sesma, Juliana J; Quiroga, Santiago S; Díaz Añel, Alberto A; Malhotra, Vivek V; Marzolo, Maria Paz MP; Cáceres, Alfredo A
Publication Date: 2008-09-10
Variant appearance in text: PKD1: S916E
PubMed Link:
18784310
Variant Present in the following documents:
Main text
View BVdb publication page