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| Gene | KIT |
| Variant | N80S |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT N80S lies within Ig-like C2-type domain 1 of the Kit protein (UniProt.org). N80S has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT N80S |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54695683A>G |
| cDNA | c.239A>G |
| Protein | p.N80S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001385292.1 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| XM_017008180 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| NM_001093772 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| XM_005265741 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| XM_005265740 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| NM_001093772.2 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| NM_001385286.1 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| XM_005265742.3 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| XM_017008179 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| NM_001385288.1 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| XM_017008180.1 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| XM_005265740.1 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| XM_005265741.1 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| XM_005265742 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| XM_017008179.1 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| NM_001093772.1 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| NM_001385284.1 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| NM_001385290.1 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54695683A>G | c.239A>G | p.N80S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|