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PRRT2 c.34_35delinsGC ;(p.K12A)
Variant ID: 16-29824409-AA-GC
NM_145239.2(
PRRT2
):c.34_35delinsGC;(p.K12A)
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:
Heterologous phosphorylation-induced formation of a stability lock permits regulation of inactive receptors by β-arrestins.
The Journal Of Biological Chemistry
Tóth, András D AD; Prokop, Susanne S; Gyombolai, Pál P; Várnai, Péter P; Balla, András A; Gurevich, Vsevolod V VV; Hunyady, László L; Turu, Gábor G
Publication Date: 2018-01-19
Variant appearance in text: PKC: K12A
PubMed Link:
29146594
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular determinants of PI(4,5)P2 and PI(3,4,5)P3 regulation of the epithelial Na+ channel.
The Journal Of General Physiology
Pochynyuk, Oleh O; Tong, Qiusheng Q; Medina, Jorge J; Vandewalle, Alain A; Staruschenko, Alexander A; Bugaj, Vladislav V; Stockand, James D JD
Publication Date: 2007-10
Variant appearance in text: PKC: K12A
PubMed Link:
17893193
Variant Present in the following documents:
jgp1300399.pdf
View BVdb publication page