PDGFRB I535_A540delinsVPSWP
Gene Variant Detail

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Gene PDGFRB
Variant I535_A540delinsVPSWP
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions PDGFRB I535_A540delinsVPSWP results in a deletion of six amino acids in the cytoplasmic domain of the Pdgfrb protein from amino acids 535 to 540, combined with the insertion of five amino acids at the same site (UniProt.org). I535_A540delinsVPSWP confers a gain of function to the Pdgfrb protein as indicated by constitutive phosphorylation of Pdgfrb and phosphorylation of Stat3 in cultured cells, and activation of the Stat and Mapk pathways in the absence of ligand in a reporter assay (PMID: 36201717).
Associated Drug Resistance
Category Variants Paths

PDGFRB mutant PDGFRB act mut PDGFRB I535_A540delinsVPSWP

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Transcript NM_002609.4
gDNA chr5:g.150126574_150126591delinsAGGCCAGCTAGGTAC
cDNA c.1603_1620delinsGTACCTAGCTGGCCT
Protein p.I535_A540delinsVPSWP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002609.4 chr5:g.150126574_150126591delinsAGGCCAGCTAGGTAC c.1603_1620delinsGTACCTAGCTGGCCT p.I535_A540delinsVPSWP RefSeq GRCh38/hg38
NM_002609.3 chr5:g.150126574_150126591delinsAGGCCAGCTAGGTAC c.1603_1620delinsGTACCTAGCTGGCCT p.I535_A540delinsVPSWP 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PDGFRB I535_A540delinsVPSWP infantile myofibromatosis predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in improvement in the small bowel obstruction and gastric myofibromas after 6 weeks in a patient with multicentric infantile myofibromatosis harboring PDGFRB I535_A540delinsVPSWP, and in a preclinical analysis, Gleevec (imatinib) inhibited STAT and MAPK pathway activity in cells expressing PDGFRB I535_A540delinsVPSWP in a luciferase assay (PMID: 36201717). 36201717