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Gene | KIT |
Variant | D579G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT D579G lies within the cytoplasmic domain of the Kit protein (UniProt.org). D579G has been identified in the scientific literature (PMID: 35753087), 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 exon11 KIT D579G |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727504A>G |
cDNA | c.1736A>G |
Protein | p.D579G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.3 | chr4:g.54727504A>G | c.1736A>G | p.D579G | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54727504A>G | c.1736A>G | p.D579G | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727504A>G | c.1736A>G | p.D579G | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727504A>G | c.1736A>G | p.D579G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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