Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | PDGFRB |
| Variant | N666K |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PDGFRB N666K lies within the protein kinase domain of the Pdgfrb protein (PMID: 26455322). N666K results in increased Pdgfrb phosphorylation (PMID: 38741091), constitutive activation of Pdgfrb, and transformation in cell culture (PMID: 26455322). |
| Associated Drug Resistance | |
| Category Variants Paths |
PDGFRB mutant PDGFRB act mut PDGFRB N666K |
| Transcript | NM_002609.4 |
| gDNA | chr5:g.150124275G>C |
| cDNA | c.1998C>G |
| Protein | p.N666K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011537659 | chr5:g.150124275G>C | c.1998C>G | p.N666K | RefSeq | GRCh38/hg38 |
| NM_002609.4 | chr5:g.150124275G>C | c.1998C>G | p.N666K | RefSeq | GRCh38/hg38 |
| NM_002609.3 | chr5:g.150124275G>C | c.1998C>G | p.N666K | RefSeq | GRCh38/hg38 |
| XM_011537658 | chr5:g.150124275G>C | c.1998C>G | p.N666K | RefSeq | GRCh38/hg38 |
| NM_002609 | chr5:g.150124275G>C | c.1998C>G | p.N666K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PDGFRB N666K | gain of function | PDGFR Inhibitor (Pan) PDGFR-beta Inhibitor |
| BRAF V600E/K PDGFRB N666K |