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Gene | NTRK2 |
Variant | R458G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | NTRK2 R458G lies within the cytoplasmic domain of the Ntrk2 protein (UniProt.org). R458G results in cell surface expression and receptor dimerization similar to wild-type Ntrk2 but leads to increased phosphorylation of Ntrk2, Akt, and Erk, and IL3-independent growth in culture (PMID: 32315394). |
Associated Drug Resistance | |
Category Variants Paths |
NTRK2 mutant NTRK2 act mut NTRK2 R458G |
Transcript | NM_001018064.3 |
gDNA | chr9:g.84752061A>G |
cDNA | c.1372A>G |
Protein | p.R458G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |