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| Gene | KDR |
| Variant | D717V |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | KDR (VEGFR2) D717V lies within Ig-like C2-type domain 7 of the Kdr (Vegfr2) protein (PMID: 19723655). D717V confers a gain of function to the Kdr (Vegfr2) protein as demonstrated by ligand-independent tyrosine autophosphorylation in cultured cells (PMID: 19723655), and tumor formation in mouse models (PMID: 29588308). |
| Associated Drug Resistance | |
| Category Variants Paths |
KDR mutant KDR act mut KDR D717V |
| Transcript | NM_002253.4 |
| gDNA | chr4:g.55102013T>A |
| cDNA | c.2150A>T |
| Protein | p.D717V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002253.3 | chr4:g.55102013T>A | c.2150A>T | p.D717V | RefSeq | GRCh38/hg38 |
| NM_002253.4 | chr4:g.55102013T>A | c.2150A>T | p.D717V | RefSeq | GRCh38/hg38 |
| NM_002253 | chr4:g.55102013T>A | c.2150A>T | p.D717V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| KDR D717V | Advanced Solid Tumor | sensitive | Sunitinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing KDR D717V were sensitive to Sutent (sunitinib) in culture (PMID: 19723655). | 19723655 |