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| Gene | PDGFRB |
| Variant | D850N |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PDGFRB D850N lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). D850N results in increased ligand-dependent phosphorylation of Pdgfrb and transforming activity in culture (PMID: 14996833). |
| Associated Drug Resistance | |
| Category Variants Paths |
PDGFRB mutant PDGFRB act mut PDGFRB D850N |
| Transcript | NM_002609.4 |
| gDNA | chr5:g.150120926C>T |
| cDNA | c.2548G>A |
| Protein | p.D850N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011537658 | chr5:g.150120926C>T | c.2548G>A | p.D850N | RefSeq | GRCh38/hg38 |
| XM_011537659 | chr5:g.150120926C>T | c.2548G>A | p.D850N | RefSeq | GRCh38/hg38 |
| NM_002609.3 | chr5:g.150120926C>T | c.2548G>A | p.D850N | RefSeq | GRCh38/hg38 |
| NM_002609 | chr5:g.150120926C>T | c.2548G>A | p.D850N | RefSeq | GRCh38/hg38 |
| NM_002609.4 | chr5:g.150120926C>T | c.2548G>A | p.D850N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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