rs540991389
This variant is located in the RB1 gene.
▶ClinVar annotation
About RB1
The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
View all RB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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