Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | NTRK2 |
| Variant | R734C |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | NTRK2 R734C (corresponds to R718C in the canonical isoform) lies within the protein kinase domain of the Ntrk2 protein (UniProt.org). R734C results in loss of Ntrk2 autophosphorylation, decreased phosphorylation of Ntrk2, Akt and Erk upon growth factor stimulation, is not transforming, and is associated with resistance to a Trk inhibitor in cell culture (PMID: 21242122). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
NTRK2 mutant NTRK2 inact mut NTRK2 R734C |
| Transcript | NM_006180.6 |
| gDNA | chr9:g.85020233C>T |
| cDNA | c.2200C>T |
| Protein | p.R734C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006180.4 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_005252003.3 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_017014751.3 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_005252001.3 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_005252003.4 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| NM_006180 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_005252003 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_005252004 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_017014751.2 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_047423432.1 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_005252001 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_047423433.1 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_017014751 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_005252004.2 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| NM_006180.6 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_005252001.4 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| XM_005252004.3 | chr9:g.85020233C>T | c.2200C>T | p.R734C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| NTRK2 R734C | Advanced Solid Tumor | resistant | AZD6918 | Preclinical | Actionable | In a preclinical study, a transformed cell line expressing NTRK2 R734C was resistant to inhibition of Ntrk2 autophosphorylation and BDNF-induced cell proliferation by AZD6918 treatment in culture (PMID: 21242122). | 21242122 |