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PRRT2 c.784_785delinsTG ;(p.T262C)
Variant ID: 16-29825159-AC-TG
NM_145239.2(
PRRT2
):c.784_785delinsTG;(p.T262C)
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:
An electrostatic switching mechanism to control the lipid transfer activity of Osh6p.
Nature Communications
Lipp, Nicolas-Frédéric NF; Gautier, Romain R; Magdeleine, Maud M; Renard, Maxime M; Albanèse, Véronique V; Čopič, Alenka A; Drin, Guillaume G
Publication Date: 2019-09-02
Variant appearance in text: PKC: T262C
PubMed Link:
31477717
Variant Present in the following documents:
Main text
41467_2019_Article_11780.pdf
View BVdb publication page