Gene Variant Detail

Gene PDGFRA
Variant I843_M844del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions PDGFRA I843_M844del results in the deletion of two amino acids in the protein kinase domain of the Pdgfra protein between amino acids 843 to 844 (UniProt.org). I843_M844del has not been characterized, however, similar PDGFRA exon 18 deletions are activating (PMID: 15928335, PMID: 14645423) and therefore, is predicted to result in a gain of function.
Associated Drug Resistance

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Transcript NM_006206
gDNA chr4:g.54285928_54285933delATCATG
cDNA c.2527_2532delATCATG
Protein p.I843_M844delIM
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265743 chr4:g.54285928_54285933delATCATG c.2527_2532delATCATG p.I843_M844delIM RefSeq GRCh38/hg38
NM_006206 chr4:g.54285928_54285933delATCATG c.2527_2532delATCATG p.I843_M844delIM RefSeq GRCh38/hg38
XM_011534385 chr4:g.54285928_54285933delATCATG c.2527_2532delATCATG p.I843_M844delIM RefSeq GRCh38/hg38
XM_017008280 chr4:g.54285889_54285894delAAAATT c.2527_2532delAAAATT p.K843_I844delKI RefSeq GRCh38/hg38
XM_006714039 chr4:g.54285854_54285859delATCTGG c.2528_2533delATCTGG p.D843_L844delDL RefSeq GRCh38/hg38

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Molecular Profile Protein Effect Treatment Approaches
PDGFRA I843_M844del 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