Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.080 | GeneticVariation | BEFREE | We summarize and discuss nm23-H1 genetics and the prognosis of neuroblastoma, structural and functional changes associated with the S120G mutation of NDPK-A, as well as the evidence supporting the role of NDPK-A as a metastasis promoter. | 28991262 | 2018 |
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0.080 | GeneticVariation | BEFREE | Aggregation of the neuroblastoma-associated mutant (S120G) of the human nucleoside diphosphate kinase-A/NM23-H1 into amyloid fibrils. | 21484438 | 2011 |
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0.080 | GeneticVariation | BEFREE | The point mutation S120G in human nucleoside diphosphate kinase A, identified in patients with neuroblastoma, causes a protein folding defect. | 19186179 | 2009 |
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0.080 | GeneticVariation | BEFREE | Compared with its wild-type, NDPK-A(S120G) appears more effective in promoting neuroblastoma metastasis. | 15280446 | 2004 |
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0.080 | GeneticVariation | BEFREE | However, the k-pn type proline-96 to serine (P96S) and neuroblastoma type serine-120 to glycine (S120G) mutations of Nm23-H1 abrogated its inhibitory activity on colonization and invasion. | 12859952 | 2003 |
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0.080 | GeneticVariation | BEFREE | Prune protein interacts with the metastasis suppressor nm23-H1, but shows impaired affinity towards the nm23-H1 S120G mutant associated with advanced neuroblastoma. | 11687967 | 2001 |
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0.080 | GeneticVariation | BEFREE | Moreover, like the Killer-of-prune mutation in Drosophila NDK and the neuroblastoma Ser120 --> Gly mutation in human NDK-A/Nm23-H1, the Ser122 --> Pro substitution in NDK-B affects the stability of the protein toward heat and urea. | 10400630 | 1999 |
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0.080 | GeneticVariation | BEFREE | A similar ser120-gly mutation in NME1 has been found in human neuroblastoma, suggesting that mutation in this region may be a general phenomenon related to tumor progression. | 7794272 | 1995 |