rs1268179012
This variant is located in the RBBP5 gene.
▶ClinVar annotation
About RBBP5
This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]
View all RBBP5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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