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Gene | KIT |
Variant | T670A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT T670A lies within the protein kinase domains of the Kit protein (UniProt.org). T670A results in weak phosphorylation of the Kit protein when present with KIT V559del in cultured cells (PMID: 19176456), but has not been individually characterized and therefore, its effect on Kit protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon14 KIT T670A |
Transcript | NM_000222.3 |
gDNA | chr4:g.54729352A>G |
cDNA | c.2008A>G |
Protein | p.T670A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.2 | chr4:g.54729352A>G | c.2008A>G | p.T670A | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54729352A>G | c.2008A>G | p.T670A | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54729352A>G | c.2008A>G | p.T670A | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54729352A>G | c.2008A>G | p.T670A | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54729352A>G | c.2008A>G | p.T670A | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54729352A>G | c.2008A>G | p.T670A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT T670A KIT D816V | Advanced Solid Tumor | sensitive | Avapritinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670A demonstrated sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). | 31270078 |
KIT T670A KIT D816V | Advanced Solid Tumor | sensitive | Midostaurin | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670A were sensitive to treatment with Rydapt (midostaurin) in culture, demonstrating decreased cell proliferation (PMID: 31270078). | 31270078 |