PDGFRB E563_I564del
Gene Variant Detail

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Gene PDGFRB
Variant E563_I564del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions PDGFRB E563_I564del results in the deletion of two amino acids in the cytoplasmic domain of the Pdgfrb protein from amino acids 563 to 564 (UniProt.org). E563_I564del results in increased phosphorylation of Pdgfrb in culture (PMID: 38741091), and therefore, is predicted to lead to a gain of Pdgfrb protein function.
Associated Drug Resistance
Category Variants Paths

PDGFRB mutant PDGFRB act mut PDGFRB E563_I564del

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Transcript NM_002609.4
gDNA chr5:g.150125561_150125566delATCTCG
cDNA c.1687_1692delGAGATC
Protein p.E563_I564del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002609.4 chr5:g.150125561_150125566delATCTCG c.1687_1692delGAGATC p.E563_I564del 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries