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PRRT2 c.718_719delinsAA ;(p.R240K)
Variant ID: 16-29825093-CG-AA
NM_145239.2(
PRRT2
):c.718_719delinsAA;(p.R240K)
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:
Discrimination of GLUT4 vesicle trafficking from fusion using a temperature-sensitive Munc18c mutant.
The Embo Journal
Thurmond, D C DC; Pessin, J E JE
Publication Date: 2000-07-17
Variant appearance in text: PKC: R240K
PubMed Link:
10899111
Variant Present in the following documents:
Main text
View BVdb publication page