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Gene | KIT |
Variant | T670E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT T670E lies within the protein kinase domain of the Kit protein (UniProt.org). T670E has been identified in sequencing studies (PMID: 25886408, PMID: 19834613, PMID: 35194937), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon14 KIT T670E |
Transcript | NM_000222.3 |
gDNA | chr4:g.54729352_54729353delACinsGA |
cDNA | c.2008_2009delACinsGA |
Protein | p.T670E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017008178 | chr4:g.54729352_54729353delACinsGA | c.2008_2009delACinsGA | p.T670E | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54729352_54729353delACinsGA | c.2008_2009delACinsGA | p.T670E | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54729352_54729353delACinsGA | c.2008_2009delACinsGA | p.T670E | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54729352_54729353delACinsGA | c.2008_2009delACinsGA | p.T670E | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54729352_54729353delACinsGA | c.2008_2009delACinsGA | p.T670E | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54729352_54729353delACinsGA | c.2008_2009delACinsGA | p.T670E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT T670E | Advanced Solid Tumor | resistant | Imatinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing KIT T670E demonstrated resistance to Gleevec (imatinib) in culture (PMID: 35194937). | 35194937 |
KIT T670E | Advanced Solid Tumor | sensitive | Nintedanib | Preclinical - Cell culture | Actionable | In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT T670E in culture (PMID: 35194937). | 35194937 |
KIT T670E | Advanced Solid Tumor | sensitive | Sunitinib | Preclinical - Cell culture | Actionable | In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT T670E in culture (PMID: 35194937). | 35194937 |
KIT T670E | Advanced Solid Tumor | resistant | Avapritinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing KIT T670E demonstrated resistance to Ayvakit (avapritinib) in culture (PMID: 35194937). | 35194937 |
KIT T670E | Advanced Solid Tumor | resistant | Ripretinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing KIT T670E demonstrated resistance to Qinlock (ripretinib) in culture (PMID: 35194937). | 35194937 |