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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 |
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_000222.3 | 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 |
XM_017008178.1 | 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 |