Variant | Gene | Type | COSMIC ID | DNA Change (Coding Nucleotide) | Exon |
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LUC7L2 is thought to be an RNA binding protein and component of the RNA splicing machinery. Recent studies suggest that it may be a recurrent mutation in a subset of patients with AML and/or MDS although its prevalence appears to be low (less than 5%). In addition, the significance of LUC7L2 mutations is uncertain although in some reported cases it has been associated with disease progression. Further study is required.