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 | T681M |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PDGFRB T681M lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). T681M results in increased Pdgfrb autophosphorylation and promotes ligand-independent proliferation in culture (PMID: 18794843). |
| Associated Drug Resistance | |
| Category Variants Paths |
PDGFRB mutant PDGFRB act mut PDGFRB T681M |
| Transcript | NM_002609.4 |
| gDNA | chr5:g.150123182_150123183delCTinsTG |
| cDNA | c.2042_2043delCTinsTG |
| Protein | p.T681M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002609 | chr5:g.150123182_150123183delAGinsCA | c.2042_2043delCTinsTG | p.T681M | RefSeq | GRCh38/hg38 |
| NM_002609.4 | chr5:g.150123182_150123183delCTinsTG | c.2042_2043delCTinsTG | p.T681M | RefSeq | GRCh38/hg38 |
| NM_002609.3 | chr5:g.150123182_150123183delCTinsTG | c.2042_2043delCTinsTG | p.T681M | RefSeq | GRCh38/hg38 |
| XM_011537659 | chr5:g.150123182_150123183delAGinsCA | c.2042_2043delCTinsTG | p.T681M | RefSeq | GRCh38/hg38 |
| XM_011537658 | chr5:g.150123182_150123183delAGinsCA | c.2042_2043delCTinsTG | p.T681M | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PDGFRB T681M | gain of function | PDGFR Inhibitor (Pan) PDGFR-beta Inhibitor |