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|Synonyms||BCoR-L1 | CXorf10 | SHUVER|
|Gene Description||BCORL1, BCL6 corepressor-like 1, is a transcription corepressor and is involved in histone deacetylase activity (PMID: 17379597). BCORL1 mutations have been observed in acute myeloid leukemia and myelodysplastic syndromes (PMID: 30618304), while elevated expression of BCORL1 has been identified in hepatocellular carcinoma (PMID: 22210327, PMID: 26879601).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|inact mut||unknown||loss of function||BCORL1 inact mut indicates that this variant results in a loss of function of the Bcorl1 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||BCORL1 mutant indicates an unspecified mutation in the BCORL1 gene.|
|L884fs||frameshift||loss of function - predicted||BCORL1 L884fs results in a change in the amino acid sequence of the Bcorl1 protein beginning at aa 884 of 1711, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), L884fs is predicted to result in a loss of Bcorl1 protein function.|