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| Gene | KIT |
| Variant | W557S |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT W557S lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). W557S has been identified in sequencing studies (PMID: 17438095), 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 W557S |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727438G>C |
| cDNA | c.1670G>C |
| Protein | p.W557S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017008178 | chr4:g.54727438G>C | c.1670G>C | p.W557S | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727438G>C | c.1670G>C | p.W557S | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727438G>C | c.1670G>C | p.W557S | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54727438G>C | c.1670G>C | p.W557S | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54727438G>C | c.1670G>C | p.W557S | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54727438G>C | c.1670G>C | p.W557S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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