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| Gene | PDGFRB |
| Variant | A6V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PDGFRB A6V lies within the signal peptide region of the Pdgfrb protein (UniProt.org). A6V has been identified in the scientific literature (PMID: 25336117), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
PDGFRB mutant PDGFRB A6V |
| Transcript | NM_002609.4 |
| gDNA | chr5:g.150137031G>A |
| cDNA | c.17C>T |
| Protein | p.A6V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002609.4 | chr5:g.150137031G>A | c.17C>T | p.A6V | RefSeq | GRCh38/hg38 |
| NM_001355017.2 | chr5:g.150134847G>A | c.17C>T | p.A6V | RefSeq | GRCh38/hg38 |
| NM_002609.3 | chr5:g.150137031G>A | c.17C>T | p.A6V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PDGFRB A6V | colorectal cancer | predicted - sensitive | Regorafenib | Case Reports/Case Series | Actionable | In a clinical case study, a patient with metastatic colorectal cancer harboring germline PDGFRB A6V demonstrated a partial morphological and metabolic response after 8 weeks of treatment with Stivarga (regorafenib) and remained in partial remission with sustained clinical improvement for at least 9 months from the start of treatment (PMID: 25336117). | 25336117 |