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Gene | KIT |
Variant | D820E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT D820E lies within the protein kinase domain of the Kit protein (UniProt.org). D820E has been associated with secondary drug resistance (PMID: 19861442), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | Y |
Category Variants Paths |
KIT mutant KIT exon17 KIT D820E |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733168T>G |
cDNA | c.2460T>G |
Protein | p.D820E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001385290.1 | chr4:g.54733168T>G | c.2460T>G | p.D820E | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733168T>G | c.2460T>G | p.D820E | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733168T>G | c.2460T>G | p.D820E | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733168T>G | c.2460T>G | p.D820E | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733168T>G | c.2460T>G | p.D820E | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733168T>G | c.2460T>G | p.D820E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT A502_Y503dup KIT D820E | gastrointestinal stromal tumor | resistant | Imatinib | Preclinical - Pdx | Actionable | In a preclinical study, Gleevec (imatinib mesylate) did not inhibit Kit, Erk, or Mtor signaling and resulted in minimal (7.4%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup and KIT D820E, which was established from a patient who did not respond to Gleevec (imatinib mesylate) and Sutent (sunitinib) (PMID: 29100343). | 29100343 |
KIT A502_Y503dup KIT D820E | gastrointestinal stromal tumor | predicted - resistant | Sunitinib | Preclinical - Pdx | Actionable | In a preclinical study, Sutent (sunitinib) did not inhibit Kit, Erk, or Mtor signaling and resulted in minimal (26.2%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup and KIT D820E, which was established from a patient who did not respond to Gleevec (imatinib mesylate) and Sutent (sunitinib) (PMID: 29100343). | 29100343 |