PDGFRB N666K
Gene Variant Detail

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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

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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
NM_002609 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_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
XM_011537658 chr5:g.150124275G>C c.1998C>G p.N666K RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PDGFRB N666K Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited PDGFRB downstream signaling and proliferation of transformed cells expressing PDGFRB N666K in culture (PMID: 26455322). 26455322
PDGFRB N666K Advanced Solid Tumor sensitive Imatinib Preclinical - Biochemical Actionable In a preclinical study, Gleevec (imatinib) treatment inhibited Pdgfrb activity in a reporter assay in a cell line expressing PDGFRB N666K (PMID: 39580648). 39580648
PDGFRB N666K Advanced Solid Tumor sensitive Ponatinib Preclinical - Cell culture Actionable In a preclinical study, Iclusig (ponatinib) inhibited PDGFRB downstream signaling and proliferation of transformed cells expressing PDGFRB N666K in culture (PMID: 26455322). 26455322
PDGFRB N666K Advanced Solid Tumor sensitive Nilotinib Preclinical - Cell culture Actionable In a preclinical study,Tasigna (nilotinib) inhibited PDGFRB downstream signaling and proliferation of transformed cells expressing PDGFRB N666K in culture (PMID: 26455322). 26455322