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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_005252001 | 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_005252001.4 | 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 |
| XM_005252003 | 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_005252004.2 | 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 |
| XM_047423432.1 | 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_017014751.3 | 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_017014751 | 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 |
| NM_006180.4 | 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 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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