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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
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
NM_000222 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_000222.2 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
KIT V654A unknown
KIT W557_K558del KIT V654A
KIT V560_L576del KIT V654A
KIT exon11 KIT V654A
KIT V560D KIT V654A
KIT V560del KIT V654A
KIT V559D KIT V654A
KIT K558_V560del KIT V654A
KIT V569_L576del KIT V654A KIT N822K
KIT V654A KIT D816V
KIT V559_G565del KIT V654A KIT A829P
KIT V560_Y578del KIT V654A
KIT A502_Y503dup KIT V654A
KIT exon 11 del KIT V654A
KIT exon 9 ins KIT V654A
KIT E554_K558del KIT V654A
KIT Q556_V559delinsHT KIT V654A
KIT Q556_I571del KIT V654A
KIT E554_Y570del KIT V654A
KIT W557_E561del KIT V654A
KIT M552_D572del KIT V654A
KIT V559_T574del KIT V654A
KIT Q556_W557del KIT V654A