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| Gene | PDGFRB |
| Variant | P584R |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PDGFRB P584R lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). P584R confers a gain of function to Pdgfrb, as indicated by activation of downstream signaling, increased proliferation, and transformation of cultured cells (PMID: 26455322). |
| Associated Drug Resistance | |
| Category Variants Paths |
PDGFRB mutant PDGFRB act mut PDGFRB P584R |
| Transcript | NM_002609.4 |
| gDNA | chr5:g.150125501G>C |
| cDNA | c.1751C>G |
| Protein | p.P584R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002609.4 | chr5:g.150125501G>C | c.1751C>G | p.P584R | RefSeq | GRCh38/hg38 |
| XM_011537659 | chr5:g.150125501G>C | c.1751C>G | p.P584R | RefSeq | GRCh38/hg38 |
| NM_002609 | chr5:g.150125501G>C | c.1751C>G | p.P584R | RefSeq | GRCh38/hg38 |
| XM_011537658 | chr5:g.150125501G>C | c.1751C>G | p.P584R | RefSeq | GRCh38/hg38 |
| NM_002609.3 | chr5:g.150125501G>C | c.1751C>G | p.P584R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PDGFRB P584R | gain of function | PDGFR Inhibitor (Pan) PDGFR-beta Inhibitor |