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Gene | KIT |
Variant | V654G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT V654G lies within the protein kinase domain of the Kit protein (UniProt.org). V654G is associated with resistance to KIT inhibitors (PMID: 38408285), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
KIT mutant KIT exon13 KIT V654X KIT V654G |
Transcript | NM_000222.3 |
gDNA | chr4:g.54728092T>G |
cDNA | c.1961T>G |
Protein | p.V654G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001385285.1 | chr4:g.54728092T>G | c.1961T>G | p.V654G | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54728092T>G | c.1961T>G | p.V654G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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