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| Gene | PDGFRB |
| Variant | D850Y |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PDGFRB D850Y lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). D850Y results in increased autophosphorylation of Pdgfrb in cultured cells (PMID: 31031011), constitutive activation in a reporter assay (PMID: 39580648), and has been associated with resistance in a reporter assay (PMID: 39580648). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
PDGFRB mutant PDGFRB act mut PDGFRB D850Y |
| Transcript | NM_002609.4 |
| gDNA | chr5:g.150120926C>A |
| cDNA | c.2548G>T |
| Protein | p.D850Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011537659 | chr5:g.150120926C>A | c.2548G>T | p.D850Y | RefSeq | GRCh38/hg38 |
| NM_002609.3 | chr5:g.150120926C>A | c.2548G>T | p.D850Y | RefSeq | GRCh38/hg38 |
| NM_002609.4 | chr5:g.150120926C>A | c.2548G>T | p.D850Y | RefSeq | GRCh38/hg38 |
| NM_002609 | chr5:g.150120926C>A | c.2548G>T | p.D850Y | RefSeq | GRCh38/hg38 |
| XM_011537658 | chr5:g.150120926C>A | c.2548G>T | p.D850Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PDGFRB D850Y | Advanced Solid Tumor | predicted - resistant | Imatinib | Preclinical - Biochemical | Actionable | In a preclinical study, PDGFRB D850Y demonstrated resistance to inhibition of Pdgfrb activity by Gleevec (imatinib) treatment in a reporter assay in cultured cells (PMID: 39580648). | 39580648 |
| PDGFRB D850Y | Advanced Solid Tumor | predicted - sensitive | Dasatinib | Preclinical - Biochemical | Actionable | In a preclinical study, Sprycel (dasatinib) treatment inhibited Pdgfrb activity in a reporter assay in a cell line expressing PDGFRB D850Y (PMID: 39580648). | 39580648 |