Gene Variant Detail

Gene PDGFRA
Variant I843del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions PDGFRA I843del results in the deletion of one amino acid in the protein kinase domain of the Pdgfra protein (UniProt.org). I843del is predicted to confer a gain of function to the Pdgfra protein as demonstrated by increased ligand-independent phosphorylation of Pdgfra (PMID: 14645423).
Associated Drug Resistance

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Transcript NM_006206
gDNA chr4:g.54285930_54285932delCAT
cDNA c.2529_2531delCAT
Protein p.I843delI
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011534385 chr4:g.54285930_54285932delCAT c.2529_2531delCAT p.I843delI RefSeq GRCh38/hg38
XM_006714039 chr4:g.54285853_54285855delGAT c.2527_2529delGAT p.D843delD RefSeq GRCh38/hg38
NM_006206 chr4:g.54285930_54285932delCAT c.2529_2531delCAT p.I843delI RefSeq GRCh38/hg38
XM_017008280 chr4:g.54285890_54285892delAAA c.2528_2530delAAA p.K843delK RefSeq GRCh38/hg38
XM_005265743 chr4:g.54285930_54285932delCAT c.2529_2531delCAT p.I843delI 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.
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Molecular Profile Protein Effect Treatment Approaches
PDGFRA I843del gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PDGFRA I843del Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) decreased phosphorylation of Pdgfra in cell lines expressing PDGFRA I843del mutation in culture (PMID: 14645423). 14645423