Variant | Gene | Type | COSMIC ID | DNA Change (Coding Nucleotide) | Exon |
---|---|---|---|---|---|
RPL10 copy number gain | RPL10 | CNV | |||
RPL10 copy number loss | RPL10 | CNV | |||
RPL10 any mutation | RPL10 | any |
RPL10 is a ribosomal protein of the 60S ribosomal subunit and shows missense mutations in approximately 5-8% of pediatric patients with T-cell acute lymphoblastic leukemia. The most common mutation is at p.Arg98. Functional studies suggest that the p.Arg98Ser mutation of RPL10 is associated with a ribosomal biogenesis defect. RPL10 is located on the X chromosome and RPL10 mutations may be enriched in male patients.
This gene is a known cancer gene.
This gene is a known cancer gene.