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| Gene | PDGFRB |
| Variant | V258L |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | PDGFRB V258L lies within Ig-like C2-type domain 3 of the Pdgfrb protein (UniProt.org). V258L results in Pdgfrb expression, phosphorylation of Erk, and subcellular localization similar to wild-type Pdgfrb in culture (PMID: 30761385), and therefore, is predicted to have no effect on Pdgfrb protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PDGFRB mutant PDGFRB V258L |
| Transcript | NM_002609.4 |
| gDNA | chr5:g.150133748C>G |
| cDNA | c.772G>C |
| Protein | p.V258L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002609.4 | chr5:g.150133748C>G | c.772G>C | p.V258L | RefSeq | GRCh38/hg38 |
| NM_001355016.2 | chr5:g.150132913C>G | c.772G>C | p.V258L | RefSeq | GRCh38/hg38 |
| NM_001355017.2 | chr5:g.150130651C>G | c.772G>C | p.V258L | RefSeq | GRCh38/hg38 |
| NM_002609.3 | chr5:g.150133748C>G | c.772G>C | p.V258L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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