PDGFRB Y562_V572dup
Gene Variant Detail

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Gene PDGFRB
Variant Y562_V572dup
Impact List duplication
Protein Effect gain of function - predicted
Gene Variant Descriptions PDGFRB Y562_V572dup indicates the insertion of 11 duplicate amino acids, tyrosine (Y)-562 through valine (V)-572, of the Pdgfrb protein (UniProt.org). Y562_V572dup results in increased Pdgfrb activation as demonstrated by elevated Stat3 and Mapk activity in a reporter assay (PMID: 31017643), 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_V572dup

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Transcript NM_002609.4
gDNA chr5:g.150125536_150125568
cDNA c.1684_1716
Protein p.Y562_V572
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002609.4 chr5:g.150125536_150125568 c.1684_1716 p.Y562_V572 RefSeq GRCh38/hg38
XM_011537658 chr5:g.150125536_150125568 c.1684_1716 p.Y562_V572 RefSeq GRCh38/hg38
NM_002609 chr5:g.150125536_150125568 c.1684_1716 p.Y562_V572 RefSeq GRCh38/hg38
XM_011537659 chr5:g.150125536_150125568 c.1684_1716 p.Y562_V572 RefSeq GRCh38/hg38
NM_002609.3 chr5:g.150125536_150125568 c.1684_1716 p.Y562_V572 RefSeq GRCh38/hg38

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  • 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