PDGFRB Y562_R565del
Gene Variant Detail

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Gene PDGFRB
Variant Y562_R565del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions PDGFRB Y562_R565del results in the deletion of four amino acids in the cytoplasmic domain of the Pdgfrb protein from amino acids 562 to 565 (UniProt.org). Y562_R565del results in increased autophosphorylation in cultured cells (PMID: 31031011, 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 Y562_R565del

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Transcript NM_002609.4
gDNA chr5:g.150125557_150125568del12
cDNA c.1685_1696del12
Protein p.Y562_R565del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011537658 chr5:g.150125557_150125568del12 c.1685_1696del12 p.Y562_R565del RefSeq GRCh38/hg38
XM_011537659 chr5:g.150125557_150125568del12 c.1685_1696del12 p.Y562_R565del RefSeq GRCh38/hg38
NM_002609.4 chr5:g.150125557_150125568del12 c.1685_1696del12 p.Y562_R565del RefSeq GRCh38/hg38

Filtering

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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