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| Gene | AXL |
| Variant | Y821F |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | AXL Y821F lies within the protein kinase domain of the Axl protein (PMID: 31825826). Y821F demonstrates reduced binding to Abl2 in the presence of ligand in cell culture (PMID: 31825826), and therefore, is predicted to lead to a loss of Axl protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
AXL mutant AXL inact mut AXL Y821F |
| Transcript | NM_021913.5 |
| gDNA | chr19:g.41259681A>T |
| cDNA | c.2462A>T |
| Protein | p.Y821F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001699.6 | chr19:g.41259708A>T | c.2462A>T | p.Y821F | RefSeq | GRCh38/hg38 |
| NM_021913.4 | chr19:g.41259681A>T | c.2462A>T | p.Y821F | RefSeq | GRCh38/hg38 |
| NM_021913.5 | chr19:g.41259681A>T | c.2462A>T | p.Y821F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| AXL Y821F | head and neck squamous cell carcinoma | sensitive | Cetuximab | Preclinical - Cell line xenograft | Actionable | In a preclinical study, Erbitux (cetuximab) treatment inhibited proliferation of head and neck squamous cell carcinoma cells expressing AXL Y821F in culture, and delayed tumor growth in a cell line xenograft model (PMID: 32439698). | 32439698 |
| AXL Y821F | head and neck squamous cell carcinoma | no benefit | Bemcentinib + Cetuximab | Preclinical - Cell culture | Actionable | In a preclinical study, combining Bemcentinib (BGB-324) with Erbitux (cetuximab) treatment inhibited proliferation of head and neck squamous cell carcinoma cells expressing AXL Y821F, but did not enhance inhibition compared to cells treated with Erbitux (cetuximab) alone in culture (PMID: 32439698). | 32439698 |