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|Synonyms||B23 | NPM|
|Gene Description||NPM1, nucleophosmin, is a phosphoprotein that shuttles between the nucleus and cytoplasm, and is involved in several cellular processes including ribosomal processing and export, chromatin remodeling, DNA replication and repair, and cell cycle control (PMID: 29157973, PMID: 23436734). NPM1 is frequently mutated in acute myeloid leukemia (PMID: 29157973, PMID: 23436734, PMID: 30122998, PMID: 29785446).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||NPM1 act mut indicates that this variant results in a gain of function in the Npm1 protein. However, the specific amino acid change has not been identified.|
|exon12||unknown||unknown||NPM1 exon12 mutations are found in AML with normal karyotype and predominantly result in a frameshift at the C-terminal, with mutation of either or both T288 and/or T290 and five new terminal residues, VSLRK. As these mutations result in the cytoplasmic location of Npm1 protein, they are also called NPM1c+ or NPMc+ (PMID: 15659725, PMID: 16076867) and are transforming in cell culture (PMID: 26884713).|
|mutant||unknown||unknown||NPM1 mutant indicates an unspecified mutation in the Npm1 gene.|