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Gene | KIT |
Variant | D677N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT D677N lies within the protein kinase domain of the Kit protein (UniProt.org). D677N is associated with drug resistance when in the context of an activating KIT mutation (PMID: 31270078), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
KIT mutant KIT exon14 KIT D677N |
Transcript | NM_000222.3 |
gDNA | chr4:g.54729373G>A |
cDNA | c.2029G>A |
Protein | p.D677N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.3 | chr4:g.54729373G>A | c.2029G>A | p.D677N | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54729373G>A | c.2029G>A | p.D677N | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54729373G>A | c.2029G>A | p.D677N | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54729373G>A | c.2029G>A | p.D677N | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54729373G>A | c.2029G>A | p.D677N | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54729373G>A | c.2029G>A | p.D677N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT D677N KIT D816V | Advanced Solid Tumor | resistant | Midostaurin | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells co-expressing KIT D816V and KIT D677N demonstrated resistance to treatment with Rydapt (midostaurin) in culture compared to cells expressing KIT D816V alone (PMID: 31270078). | 31270078 |
KIT D677N KIT D816V | Advanced Solid Tumor | predicted - sensitive | Avapritinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells co-expressing KIT D816V and KIT D677N demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). | 31270078 |