Varaico: Literature-Extracted Genetic Variants

Gene:NME1
Variant:p.S120G
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NME1

NM_000269.3:p.S120G

Associated Papers

Nucleoside diphosphate kinases 1 and 2 regulate a protective liver response to a high-fat diet.

Iuso D et al.

Science Advances, 2023

37672589 (PubMed )
Supplement: sciadv.adh0140_sm.pdf

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Performance of protein disorder prediction programs on amino acid substitutions.

Ali H et al.

Human Mutation, 2014

24753228 (PubMed )
Supplement: supplement_1.pdf

Aggregation of the neuroblastoma-associated mutant (S120G) of the human nucleoside diphosphate kinase-A/NM23-H1 into amyloid fibrils.

Georgescauld F et al.

Naunyn-schmiedeberg's Archives of Pharmacology, 2011

A Cys/Ser mutation of NDPK-A stabilizes its oligomerization state and enhances its activity.

Chen Y et al.

Journal of Biochemistry, 2010

Genetics and genomics of neuroblastoma.

Capasso M et al.

Cancer Treatment and Research, 2010

Extraction of human kinase mutations from literature, databases and genotyping studies.

Krallinger M et al.

Bmc Bioinformatics, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

Rescue of the neuroblastoma mutant of the human nucleoside diphosphate kinase A/nm23-H1 by the natural osmolyte trimethylamine-N-oxide.

Georgescauld F et al.

Febs Letters, 2009

Protein phosphorylation corrects the folding defect of the neuroblastoma (S120G) mutant of human nucleoside diphosphate kinase A/Nm23-H1.

Mocan I et al.

The Biochemical Journal, 2007

Crystal structures of S120G mutant and wild type of human nucleoside diphosphate kinase A in complex with ADP.

Giraud MF et al.

Journal of Bioenergetics and Biomembranes, 2006

Point mutations affecting the oligomeric structure of Nm23-H1 abrogates its inhibitory activity on colonization and invasion of prostate cancer cells.

Kim YI et al.

Biochemical and Biophysical Research Communications, 2003

Identification of structural domains affecting transactivation potential of Nm23.

Cho SJ et al.

Biochemical and Biophysical Research Communications, 2001

A point mutation of human nucleoside diphosphate kinase A found in aggressive neuroblastoma affects protein folding.

Lascu I et al.

The Journal of Biological Chemistry, 1997

Site-directed mutation of Nm23-H1. Mutations lacking motility suppressive capacity upon transfection are deficient in histidine-dependent protein phosphotransferase pathways in vitro.

Freije JM et al.

The Journal of Biological Chemistry, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."