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| Gene | PDGFRB |
| Variant | V316M |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | PDGFRB V316M lies within the extracellular domain of the Pdgfrb protein (UniProt.org). V316M results in decreased Pdgfrb expression, but leads to Erk phosphorylation and subcellular localization similar to wild-type Pdgfrb (PMID: 30761385), and therefore, is predicted to have no effect on Pdgfrb protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PDGFRB mutant PDGFRB V316M |
| Transcript | NM_002609.4 |
| gDNA | chr5:g.150132931C>T |
| cDNA | c.946G>A |
| Protein | p.V316M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002609.4 | chr5:g.150132931C>T | c.946G>A | p.V316M | RefSeq | GRCh38/hg38 |
| NM_002609.3 | chr5:g.150132931C>T | c.946G>A | p.V316M | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|