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| Gene | NTRK2 |
| Variant | M713I |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | NTRK2 M713I (corresponds to M697I in the canonical isoform) lies within the protein kinase domain of the Ntrk2 protein (UniProt.org). M713I results in loss of Ntrk2 autophosphorylation, decreased phosphorylation of Ntrk2, Akt and Erk upon growth factor stimulation, is not transforming in cell culture, and is associated with resistance to a Trk inhibitor (PMID: 21242122). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
NTRK2 mutant NTRK2 inact mut NTRK2 M713I |
| Transcript | NM_006180.6 |
| gDNA | chr9:g.84955484G>C |
| cDNA | c.2139G>C |
| Protein | p.M713I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005252004.2 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| NM_006180.4 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_017014751.2 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_005252001.3 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| NM_006180.6 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_047423432.1 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_005252001.4 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_005252004 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_047423433.1 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_005252003.4 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_017014751 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_005252004.3 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| NM_006180 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_017014751.3 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_005252003 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_005252001 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| XM_005252003.3 | chr9:g.84955484G>C | c.2139G>C | p.M713I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| NTRK2 M713I | Advanced Solid Tumor | resistant | AZD6918 | Preclinical | Actionable | In a preclinical study, a transformed cell line expressing NTRK2 M713I was resistant to inhibition of Ntrk2 autophosphorylation and BDNF-induced cell proliferation by AZD6918 treatment in culture (PMID: 21242122). | 21242122 |