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| Gene | PDGFRB |
| Variant | P660T |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PDGFRB P660T lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). The functional effect of P660T is conflicting as it demonstrates activity similar to wild-type Pdgfrb and is not transforming in cultured cells in one study (PMID: 26455322) but results in constitutive phosphorylation of Pdgfrb and increased downstream signaling in cultured cells in another study (PMID: 33509954), and therefore, its effect on Pdgfrb protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
PDGFRB mutant PDGFRB P660T |
| Transcript | NM_002609.4 |
| gDNA | chr5:g.150124295G>T |
| cDNA | c.1978C>A |
| Protein | p.P660T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002609.4 | chr5:g.150124295G>T | c.1978C>A | p.P660T | RefSeq | GRCh38/hg38 |
| XM_011537658 | chr5:g.150124295G>T | c.1978C>A | p.P660T | RefSeq | GRCh38/hg38 |
| NM_002609.3 | chr5:g.150124295G>T | c.1978C>A | p.P660T | RefSeq | GRCh38/hg38 |
| XM_011537659 | chr5:g.150124295G>T | c.1978C>A | p.P660T | RefSeq | GRCh38/hg38 |
| NM_002609 | chr5:g.150124295G>T | c.1978C>A | p.P660T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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