PDGFRB I538_L539insR
Gene Variant Detail

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Gene PDGFRB
Variant I538_L539insR
Impact List insertion
Protein Effect gain of function
Gene Variant Descriptions PDGFRB I538_L539insR results in the insertion of an arginine (R) in the transmembrane domain of the Pdgfrb protein between amino acids 538 and 539 (UniProt.org). I538_L539insR 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 Stat3 in the absence of ligand, and transformation in cultured cells (PMID: 28334876).
Associated Drug Resistance
Category Variants Paths

PDGFRB mutant PDGFRB act mut PDGFRB I538_L539insR

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Transcript NM_002609.4
gDNA chr5:g.150126579_150126580insCCT
cDNA c.1614_1615insAGG
Protein p.I538_L539insR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002609.3 chr5:g.150126579_150126580insCCT c.1614_1615insAGG p.I538_L539insR RefSeq GRCh38/hg38
NM_002609.4 chr5:g.150126579_150126580insCCT c.1614_1615insAGG p.I538_L539insR RefSeq GRCh38/hg38
XM_011537659 chr5:g.150126579_150126580insCCT c.1614_1615insAGG p.I538_L539insR RefSeq GRCh38/hg38
XM_011537658 chr5:g.150126579_150126580insCCT c.1614_1615insAGG p.I538_L539insR RefSeq GRCh38/hg38
NM_002609 chr5:g.150126579_150126580insCCT c.1614_1615insAGG p.I538_L539insR RefSeq GRCh38/hg38

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References