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| Gene | KIT |
| Variant | V532I |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT V532I lies within the transmembrane domain of the Kit protein (UniProt.org). V532I has been identified in the scientific literature (PMID: 30446805, PMID: 25894969), 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 V532I |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727271G>A |
| cDNA | c.1594G>A |
| Protein | p.V532I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001385285.1 | chr4:g.54727271G>A | c.1594G>A | p.V532I | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727271G>A | c.1594G>A | p.V532I | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54727271G>A | c.1594G>A | p.V532I | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54727271G>A | c.1594G>A | p.V532I | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54727271G>A | c.1594G>A | p.V532I | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54727271G>A | c.1594G>A | p.V532I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KIT V532I | unknown |