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| Gene | KIT |
| Variant | W557R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT W557R lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 15790786). W557R has been identified in the scientific literature (PMID: 37371685, PMID: 37311038, PMID: 26848617) 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 W557R |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727437T>A |
| cDNA | c.1669T>A |
| Protein | p.W557R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222 | chr4:g.54727437T>A | c.1669T>A | p.W557R | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54727437T>A | c.1669T>A | p.W557R | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727437T>A | c.1669T>A | p.W557R | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54727437T>A | c.1669T>A | p.W557R | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54727437T>A | c.1669T>A | p.W557R | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727437T>A | c.1669T>A | p.W557R | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT05554341 | Phase II | Nilotinib + Paclitaxel | Testing the Use of Nilotinib and Paclitaxel as a Treatment for Patients With Prior Taxane Treatment, A ComboMATCH Treatment Trial | Active, not recruiting | USA | 0 |