PDGFRB R561C
Gene Variant Detail

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Gene PDGFRB
Variant R561C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PDGFRB R561C lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). R561C results in constitutive phosphorylation of Pdgfrb, activation of downstream signaling (PMID: 33509954, PMID: 26455322), and is transforming in cell culture (PMID: 26455322).
Associated Drug Resistance
Category Variants Paths

PDGFRB mutant PDGFRB act mut PDGFRB R561C

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Transcript NM_002609.4
gDNA chr5:g.150125571G>A
cDNA c.1681C>T
Protein p.R561C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002609.3 chr5:g.150125571G>A c.1681C>T p.R561C RefSeq GRCh38/hg38
NM_002609.4 chr5:g.150125571G>A c.1681C>T p.R561C RefSeq GRCh38/hg38
XM_011537659 chr5:g.150125571G>A c.1681C>T p.R561C RefSeq GRCh38/hg38
XM_011537658 chr5:g.150125571G>A c.1681C>T p.R561C RefSeq GRCh38/hg38
NM_002609 chr5:g.150125571G>A c.1681C>T p.R561C 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PDGFRB R561C Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited PDGFRB downstream signaling and proliferation of transformed cells expressing PDGFRB R561C in culture (PMID: 26455322). 26455322
PDGFRB R561C Advanced Solid Tumor sensitive Nilotinib Preclinical - Cell culture Actionable In a preclinical study, Tasigna (nilotinib) inhibited PDGFRB downstream signaling and proliferation of transformed cells expressing PDGFRB R561C in culture (PMID: 26455322). 26455322
PDGFRB R561C Advanced Solid Tumor sensitive Ponatinib Preclinical - Cell culture Actionable In a preclinical study, Iclusig (ponatinib) inhibited PDGFRB downstream signaling and proliferation of transformed cells expressing PDGFRB R561C in culture (PMID: 26455322). 26455322