AXL (P30530) variants and mutations

AXL (also known as P30530) is a human protein-coding gene encoding a tyrosine-protein kinase receptor UFO protein. Activation by GAS6 promotes cell survival, migration, immune modulation, and resistance to cellular stress. Persistent signaling is common in advanced cancers and can support epithelial-to-mesenchymal transition, metastasis, and resistance to targeted or immune therapies. This analysis covers 1,797 AXL variants and mutations. Of these, 56% have computational variant effect predictions. Disease context includes acute myeloid leukemia, neurodegenerative disease, and Alzheimer disease. Example AXL variants include M1R, A2E, and A2V.

Variant analysis overview

Gene: AXL
Protein: P30530
UniProt accession: P30530
Organism: Homo sapiens
Variants analyzed: 1797
Variant scope: all variants
Completed: 2026-08-21

Variant and mutation evidence

Variant composition: 1,614 unspecified-consequence records; 92 missense variants; 69 synonymous variants; 10 stop-gained variants; 6 frameshift variants; 4 splice-region variants; 2 in-frame deletions; 1 substitution
Prediction scores: 1,004 variants have prediction scores (56% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: acute myeloid leukemia, neurodegenerative disease, Alzheimer disease, multiple sclerosis, Parkinson disease, lysosomal storage disease, dengue disease, neoplasm, myeloid leukemia, acute myeloid leukemia by FAB classification, head and neck squamous cell carcinoma, myelodysplastic syndrome.

Protein structure and variant hotspots

Protein features: 1 transmembrane segments; 5 domains; 2 binding sites; 11 post-translational modification sites.
Structural context: 1,414 variants have structural context.
PTM context: 21 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable AXL variants

Examples include M1R, A2E, A2V, A2S, A2T, A2A, W3*, W3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

AXL analysis run — AXL (1,797 variants) — completed 2026-08-21