Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| 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, Jul 2025). |
| 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 |
|---|---|---|---|---|---|
| XM_017008178.1 | 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 |
| NM_001385285.1 | chr4:g.54727504A>G | c.1736A>G | p.D579G | RefSeq | GRCh38/hg38 |
| NM_000222.3 | 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 |
|---|