Gene Variant Detail

Gene PDGFRA
Variant R748G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PDGFRA R748G lies within the protein kinase domain of the Pdgfra protein (UniProt.org). R748G results in constitutive phosphorylation of Pdgfra and Stat5, is transforming in cell culture, and induces leukemia-like disease in animal models (PMID: 21224473).
Associated Drug Resistance

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Transcript NM_006206
gDNA chr4:g.54280401A>G
cDNA c.2242A>G
Protein p.R748G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265743 chr4:g.54280401A>G c.2242A>G p.R748G RefSeq GRCh38/hg38
XM_011534385 chr4:g.54280401A>G c.2242A>G p.R748G RefSeq GRCh38/hg38
NM_006206 chr4:g.54280401A>G c.2242A>G p.R748G RefSeq GRCh38/hg38
XM_017008282 chr4:g.54280401A>G c.2242A>G p.R748G RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 Protein Effect Treatment Approaches
PDGFRA R748G gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PDGFRA R748G myeloid leukemia sensitive Imatinib Preclinical - Cell line xenograft Actionable In a preclinical study, Gleevec (imatinib) inhibited growth of transformed mouse myeloid cells over expressing PDGFRA R748G in culture and prolonged survival in xenograft models (PMID: 21224473). 21224473