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Gene | KIT |
Variant | D820V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT D820V lies within the protein kinase domain of the Kit protein (UniProt.org). D820V has been identified as a secondary mutation associated with imatinib resistance (PMID: 18294292), 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 D820V |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733167A>T |
cDNA | c.2459A>T |
Protein | p.D820V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265741 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT W557_K558del KIT D816E KIT D820V | gastrointestinal stromal tumor | predicted - resistant | Imatinib | Case Reports/Case Series | Actionable | In a clinical study, KIT D816E and D820V were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring KIT W557_K558del who developed resistance to Gleevec (imatinib) (PMID: 18294292). | 18294292 |
KIT W557_K558del KIT V654A KIT D820V | gastrointestinal stromal tumor | predicted - resistant | Ripretinib | Case Reports/Case Series | Actionable | In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT W557_K558del progressed on fourth-line treatment with Qinlock (ripretinib) after 3.0 months and was found to have acquired KIT V654A and D820V in the metastatic lesion (PMID: 38408285). | 38408285 |