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| Gene | AXL |
| Variant | Y779F |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | AXL Y779F lies within the protein kinase domain of the Axl protein (UniProt.org). Y779F demonstrates similar binding to Abl2 in the presence of ligand in cell culture (PMID: 31825826) and confers resistance Erbitux (cetuximab) in cell culture (PMID: 32439698), but has not been fully biochemically characterized and therefore, its effect on Axl protein function is unknown. |
| Associated Drug Resistance | Y |
| Category Variants Paths |
AXL mutant AXL Y779F |
| Transcript | NM_021913.5 |
| gDNA | chr19:g.41259555A>T |
| cDNA | c.2336A>T |
| Protein | p.Y779F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_021913.5 | chr19:g.41259555A>T | c.2336A>T | p.Y779F | RefSeq | GRCh38/hg38 |
| NM_021913.4 | chr19:g.41259555A>T | c.2336A>T | p.Y779F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| AXL Y779F | head and neck squamous cell carcinoma | resistant | Cetuximab | Preclinical - Cell culture | Actionable | In a preclinical study, Erbitux (cetuximab) treatment did not inhibit proliferation of head and neck squamous cell carcinoma cells expressing AXL Y779F in culture (PMID: 32439698). | 32439698 |