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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).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A53S missense unknown NPM1 A53S lies within the regions of the Npm1 protein required for interaction with SENP3 and APEX1 (UniProt.org). A53S has not been characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
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.
amp none no effect NPM1 amplification indicates an increased number of copies of the NPM1 gene. However, the mechanism causing the increase is unspecified.
D55N missense unknown NPM1 D55N lies within the regions of the Npm1 protein required for interaction with SENP3 and APEX1 (UniProt.org). D55N has not been characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
E185K missense unknown NPM1 E185K lies within the region of the Npm1 protein required for interaction with SENP3 (UniProt.org). E185K has not been characterized in the scientific literature and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
E226* nonsense unknown NPM1 E226* results in a premature truncation of the Npm1 protein at amino acid 226 of 294 (UniProt.org). E226* has not been characterized in the scientific literature and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
E245Q missense unknown NPM1 E245Q lies within the region of the Npm1 protein required for nucleolar localization (UniProt.org). E245Q has been identified in sequencing studies (PMID: 28810143, PMID: 30942411), but has not been biochemically characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
exon12 frameshift loss of function 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).
G147D missense unknown NPM1 G147D lies within the region of the Npm1 protein required for interaction with SENP3 (UniProt.org). G147D has not been characterized in the scientific literature and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
I138V missense unknown NPM1 I138V lies within the region of the Npm1 protein required for interaction with SENP3 (UniProt.org). I138V has not been characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
K141R missense unknown NPM1 K141R lies within the region of the Npm1 protein required for interaction with SENP3 (UniProt.org). K141R has not been characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
K257E missense unknown NPM1 K257E lies within the region of the Npm1 protein required for nucleolar localization (UniProt.org). K257E has not been characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
K263R missense loss of function NPM1 K263R lies within the region of the Npm1 protein required for nucleolar localization (UniProt.org). K263R confers a loss of function to the Npm1 protein as demonstrated by loss of sumoylation, loss of Rb1 binding, and reduced E2f1-driven transcriptional activity (PMID: 17535915).
K273N missense unknown NPM1 K273N lies within the region of the Npm1 protein required for nucleolar localization (UniProt.org). K273N has not been characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
L136F missense unknown NPM1 L136F lies within the region of the Npm1 protein required for interaction with SENP3 (UniProt.org). L136F has been identified in sequencing studies (PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
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, Oct 2019).
L294F missense unknown NPM1 L294F lies within the region of the Npm1 protein required for nucleolar localization (UniProt.org). L294F has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
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, Oct 2019).
mutant unknown unknown NPM1 mutant indicates an unspecified mutation in the Npm1 gene.
N203H missense unknown NPM1 N203H does not lie within any known functional domains of the Npm1 protein (UniProt.org). N203H has not been characterized in the scientific literature and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
N38D missense unknown NPM1 N38D lies within the regions of the Npm1 protein required for interaction with SENP3 and APEX1 (UniProt.org). N38D has not been characterized in the scientific literature and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
NPM1 - ALK fusion gain of function NPM1-ALK (NPM-ALK) results from the fusion of NPM1 and ALK, and leads to constitutive tyrosine kinase activity (PMID: 8122112, PMID: 9121481). NPM1-ALK fusions have been identified in anaplastic large cell lymphoma (PMID: 17488663, PMID: 25961700)
NPM1 - TYK2 fusion gain of function NPM1-TYK2 results from the fusion of NPM1 and TYK2, and leads to constitutive activation of Tyk2 kinase and Stat1/3/5 signaling in cultured cells (PMID: 25349176). NPM1-TYK2 fusions have been identified in cutaneous CD30-positive lymphoproliferative disorders (PMID: 25349176).
over exp none no effect NPM1 over exp indicates an over expression of the Npm1 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P216S missense unknown NPM1 P216S does not lie within any known functional domains of the Npm1 protein (UniProt.org). P216S has not been characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
S106L missense unknown NPM1 S106L lies within the regions of the Npm1 protein required for interaction with SENP3 and APEX1 (UniProt.org). S106L has not been characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
S207* nonsense unknown NPM1 S207* results in a premature truncation of the Npm1 protein at amino acid 207 of 294 (UniProt.org). S207* has been identified in sequencing studies (PMID: 25151357), but has not been biochemically characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
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).
V99A missense unknown NPM1 V99A lies within the regions of the Npm1 protein required for interaction with SENP3 and APEX1 (UniProt.org). V99A has not been characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Oct 2019).
W288Cfs*12 frameshift loss of function - predicted NPM1 W288Cfs*12 is a hotspot mutation that results from a 4 bp-duplication causing a frameshift aa 288 of 294, followed by 12 amino acids creating a novel nuclear export sequence (PMID: 16501600, PMID: 15659725). W288Cfs*12 is predicted to confer a loss of function to the Npm1 protein as demonstrated by mislocalization of the Npm1 protein (PMID: 15659725).
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).
W288Lfs*12 frameshift loss of function - predicted NPM1 W288Lfs*12 is a hotspot mutation that results from a 4 bp-duplication causing a frameshift aa 288 of 294, followed by 12 amino acids creating a novel nuclear export sequence (PMID: 15659725). Other 4-bp duplications at the W288 site confer a mislocalization to the Npm1 protein, therefore, W288Lfs*12 is predicted to lead to a loss of Npm1 protein function (PMID: 15659725, PMID: 16720834).
wild-type none no effect Wild-type NPM1 indicates that no mutation has been detected within the NPM1 gene.