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| Gene | KIT |
| Variant | H697Y |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | KIT H697Y lies within the protein kinase domain of the Kit protein (UniProt.org). H697Y is transforming in cultured cells (PMID: 19861435), and therefore, is predicted to lead to a gain of Kit protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT act mut KIT H697Y KIT mutant KIT exon14 KIT H697Y |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54729433C>T |
| cDNA | c.2089C>T |
| Protein | p.H697Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001385285.1 | chr4:g.54729433C>T | c.2089C>T | p.H697Y | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54729433C>T | c.2089C>T | p.H697Y | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54729433C>T | c.2089C>T | p.H697Y | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54729433C>T | c.2089C>T | p.H697Y | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54729433C>T | c.2089C>T | p.H697Y | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54729433C>T | c.2089C>T | p.H697Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| KIT H697Y | Advanced Solid Tumor | sensitive | Sunitinib | Preclinical | Actionable | In a preclinical study, Sutent (sunitinib) inhibited growth of transformed cell lines overexpressing KIT H697Y in culture (PMID: 19861435). | 19861435 |
| KIT H697Y | Advanced Solid Tumor | decreased response | Imatinib | Preclinical | Actionable | In a preclinical study, transformed cell lines overexpressing KIT H697Y demonstrated reduced sensitivity to Gleevec (imatinib mesylate)-induced growth inhibition in culture (PMID: 19861435). | 19861435 |