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Gene KIT
Variant V654A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT V654A lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). V654A has been described as a secondary drug resistance mutation (PMID: 17363509, PMID: 16751810), but has conflicting functional data, as in some studies, results in increased proliferation in cultured cells and in murine cells (corresponding to V653A), leads to increased proliferation and elevated Stat activation in the context of KIT V559del (corresponding to V558del in mouse) in culture (PMID: 33024275), is constitutively phosphorylated in culture (PMID: 27440273), but in another study is not transforming and does not result in constitutive activation (PMID: 17363509), and therefore, its effect on Kit protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT exon13 KIT V654X KIT V654A

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Transcript NM_000222.3
gDNA chr4:g.54728092T>C
cDNA c.1961T>C
Protein p.V654A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54728092T>C c.1961T>C p.V654A RefSeq GRCh38/hg38
XM_017008178 chr4:g.54728092T>C c.1961T>C p.V654A RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54728092T>C c.1961T>C p.V654A RefSeq GRCh38/hg38
NM_000222 chr4:g.54728092T>C c.1961T>C p.V654A RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54728092T>C c.1961T>C p.V654A RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54728092T>C c.1961T>C p.V654A RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04771520 Phase II Avapritinib Avapritinib for the Treatment of CKIT or PDGFRA Mutation-Positive Locally Advanced or Metastatic Malignant Solid Tumors Recruiting USA 0