PDGFRB R561_Y562delinsH
Gene Variant Detail

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Gene PDGFRB
Variant R561_Y562delinsH
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions PDGFRB R561_Y562delinsH results in a deletion of two amino acids in the cytoplasmic domain of the Pdgfrb protein from amino acids 561 to 562, combined with the insertion of a histidine (H) at the same site (UniProt.org). R561_Y562delinsH 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 R561_Y562delinsH

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Transcript NM_002609.4
gDNA chr5:g.150125568_150125570delAAC
cDNA c.1682_1684delGTT
Protein p.R561_Y562delinsH
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011537659 chr5:g.150125568_150125570delAAC c.1682_1684delGTT p.R561_Y562delinsH RefSeq GRCh38/hg38
NM_002609.3 chr5:g.150125568_150125570delAAC c.1682_1684delGTT p.R561_Y562delinsH RefSeq GRCh38/hg38
NM_002609 chr5:g.150125568_150125570delAAC c.1682_1684delGTT p.R561_Y562delinsH RefSeq GRCh38/hg38
XM_011537658 chr5:g.150125568_150125570delAAC c.1682_1684delGTT p.R561_Y562delinsH RefSeq GRCh38/hg38
NM_002609.4 chr5:g.150125568_150125570delAAC c.1682_1684delGTT p.R561_Y562delinsH 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