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PRRT2 c.343_344delinsGA ;(p.S115D)
Variant ID: 16-29824718-AG-GA
NM_145239.2(
PRRT2
):c.343_344delinsGA;(p.S115D)
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:
Nuclear fallout provides a new link between aPKC and polarized cell trafficking.
Bmc Biology
Calero-Cuenca, Francisco J FJ; Espinosa-Vázquez, José Manuel JM; Reina-Campos, Miguel M; Díaz-Meco, María T MT; Moscat, Jorge J; Sotillos, Sol S
Publication Date: 2016-04-18
Variant appearance in text: PKC: S115D
PubMed Link:
27089924
Variant Present in the following documents:
Main text
View BVdb publication page
A Pit-1 threonine 220 phosphomimic reduces binding to monomeric DNA sites to inhibit Ras and estrogen stimulation of the prolactin gene promoter.
Molecular Endocrinology (Baltimore, Md.)
Jean, Annie A; Gutierrez-Hartmann, Arthur A; Duval, Dawn L DL
Publication Date: 2010-01
Variant appearance in text: PKC: S115D
PubMed Link:
19887646
Variant Present in the following documents:
Main text
View BVdb publication page