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Gene Symbol NPM1
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, PMID: 32203582, PMID: 32609823) and overexpression is implicated with poor prognosis in hematological and solid tumors (PMID: 32071709).

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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).
fusion fusion unknown NPM1 fusion indicates a fusion of the NPM1 gene, but the fusion partner is unknown.
inact mut unknown loss of function NPM1 inact mut indicates that this variant results in a loss of function of the Npm1 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown NPM1 mutant indicates an unspecified mutation in the Npm1 gene.
L287fs frameshift unknown NPM1 L287fs results in a change in the amino acid sequence of the Npm1 protein beginning at aa 287 of 294, likely resulting in premature truncation of the functional protein (UniProt.org). L287fs has been identified in the scientific literature (PMID: 29705980, PMID: 31048683), but has not been biochemically characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Apr 2020).
M251fs frameshift unknown NPM1 M251fs results in a change in the amino acid sequence of the Npm1 protein beginning at aa 251 of 294, likely resulting in premature truncation of the functional protein (UniProt.org). M251fs has not been characterized in the scientific literature and therefore, its effect on Npm1 protein function is unknown (PubMed, Apr 2020).
V156fs frameshift loss of function - predicted NPM1 V156fs results in a change in the amino acid sequence of the Npm1 protein beginning at aa 156 of 294, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the region required for nucleolar localization, V156fs is predicted to lead to a loss of Npm1 protein function (UniProt.org).
W288fs frameshift loss of function - predicted NPM1 W288fs is a hotspot mutation that results from a 4 bp-insertion causing a frameshift at aa 288 of 294, which can result in a novel nuclear export sequence (PMID: 15659725). Other 4-bp insertions at the W288 site confer a mislocalization to the Npm1 protein, and therefore, W288fs is predicted to lead to a loss of Npm1 protein function (PMID: 15659725, PMID: 16720834).