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Gene | NTRK2 |
Variant | R715G |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | NTRK2 R715G (corresponds to R699G in the canonical isoform) lies within the protein kinase domain of the Ntrk2 protein (UniProt.org). R715G demonstrates decreased autophosphorylation and phosphorylation of Ntrk2, Akt and Erk upon growth factor stimulation, does not support anchorage independent growth, and is associated with resistance to a Trk inhibitor in culture (PMID: 21242122). |
Associated Drug Resistance | Y |
Category Variants Paths |
NTRK2 mutant NTRK2 inact mut NTRK2 R715G |
Transcript | NM_006180.6 |
gDNA | chr9:g.84955488C>G |
cDNA | c.2143C>G |
Protein | p.R715G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |