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| Gene | KIT |
| Variant | V559C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT V559C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V559C has been identified in sequencing studies (PMID: 25695690, PMID: 15869870), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon11 KIT V559X KIT V559C |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727443_54727444delGTinsTG |
| cDNA | c.1675_1676delGTinsTG |
| Protein | p.V559C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222.2 | chr4:g.54727443_54727444delGTinsTG | c.1675_1676delGTinsTG | p.V559C | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54727443_54727444delGTinsTG | c.1675_1676delGTinsTG | p.V559C | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727443_54727444delGTinsTG | c.1675_1676delGTinsTG | p.V559C | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727443_54727444delGTinsTG | c.1675_1676delGTinsTG | p.V559C | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54727443_54727444delGTinsTG | c.1675_1676delGTinsTG | p.V559C | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54727443_54727444delGTinsTG | c.1675_1676delGTinsTG | p.V559C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KIT V559C | unknown |