Varaico: Literature-Extracted Genetic Variants

Gene:NUP54
Variant:p.N250S
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NUP54

NM_017426.4:p.N250S

Associated Papers

Detection of Circulating mRNA Variants in Hepatocellular Carcinoma Patients Using Targeted RNAseq.

Zezulinski D et al.

Liver Cancer, 2025

40331063 (PubMed )
Supplement: Supplementary_material-Suppl.2-s2.xlsx › Supp_Table_7

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_MOESM6_ESM.xlsx › SD2_-_ExAC_Variants

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2

Genetic studies of body mass index yield new insights for obesity biology.

Locke AE et al.

Nature, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AN-A049-01A.domain
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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."