PDGFRB W566R
Gene Variant Detail

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Gene PDGFRB
Variant W566R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PDGFRB W566R lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). W566R confers a gain of function to the Pdgfrb protein as indicated by constitutive activation in a reporter assay, increased tyrosine phosphorylation and elevated phosphorylation of Akt and Stat1/3/5 in the absence of ligand, and transformation in cultured cells (PMID: 28334876).
Associated Drug Resistance
Category Variants Paths

PDGFRB mutant PDGFRB act mut PDGFRB W566R

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Transcript NM_002609.4
gDNA chr5:g.150125556A>T
cDNA c.1696T>A
Protein p.W566R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002609.4 chr5:g.150125556A>T c.1696T>A p.W566R RefSeq GRCh38/hg38
NM_002609.3 chr5:g.150125556A>T c.1696T>A p.W566R RefSeq GRCh38/hg38
XM_011537658 chr5:g.150125556A>T c.1696T>A p.W566R RefSeq GRCh38/hg38
XM_011537659 chr5:g.150125556A>T c.1696T>A p.W566R RefSeq GRCh38/hg38
NM_002609 chr5:g.150125556A>T c.1696T>A p.W566R 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PDGFRB W566R Advanced Solid Tumor predicted - 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 W566R (PMID: 39580648). 39580648