AXL Chromosome 19

AXL receptor tyrosine kinase
6 variants 6 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. The encoded protein acts as a host cell receptor for multiple viruses, including Marburg, Ebola and Lassa viruses and is a candidate receptor for the SARS-CoV2 virus. [provided by RefSeq, Sep 2021]
Gene Info
Gene Group
"Receptor tyrosine kinases|Fibronectin type III domain containing|V-set domain containing"
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000167601
Associated Conditions (2)
AXL-related disorder
NK-cell enteropathy
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS1349581273 Health Risk Conflicting classifications of pathogenicity
RS141502789 Health Risk Conflicting classifications of pathogenicity
RS201003955 Health Risk Conflicting classifications of pathogenicity
RS373017958 Health Risk Conflicting classifications of pathogenicity AXL-related disorder, AXL-related disorder
RS776776986 Health Risk Conflicting classifications of pathogenicity
RS1599744167 Health Risk Likely pathogenic NK-cell enteropathy, NK-cell enteropathy
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