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PRRT2 c.313_314inv ;(p.C105H)
Variant ID: 16-29824688-TG-CA
NM_145239.2(
PRRT2
):c.313_314inv;(p.C105H)
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:
A high-throughput fluorimetric assay for 2-hydroxyglutarate identifies Zaprinast as a glutaminase inhibitor.
Cancer Discovery
Elhammali, Adnan A; Ippolito, Joseph E JE; Collins, Lynne L; Crowley, Jan J; Marasa, Jayne J; Piwnica-Worms, David D
Publication Date: 2014-07
Variant appearance in text: PKC: C105H
PubMed Link:
24740997
Variant Present in the following documents:
Main text
View BVdb publication page