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gene: BUB1B

id701
symbolBUB1B
organismHomo sapiens
full nameBUB1 mitotic checkpoint serine/threonine kinase B
summaryThis gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
variant-disease

NM_001211.5(BUB1B):c.1617_1619GAA[1] (p.Lys540del) AND not specified

NM_001211.5(BUB1B):c.572C>T (p.Ser191Phe) AND not specified

NM_001211.5(BUB1B):c.1001C>T (p.Pro334Leu) AND not specified

NM_001211.5(BUB1B):c.119C>T (p.Thr40Met) AND Carcinoma of colon

NM_001211.5(BUB1B):c.2530C>T (p.Leu844Phe) AND Premature chromatid separation trait

... 229 more


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