Varaico: Literature-Extracted Genetic Variants

Gene:RUBCN
Variant:p.H133Y
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RUBCN

NM_014687.4:p.H133Y

Associated Papers

MRAP2 potentiates GPCR signaling by conserved mechanisms that are disrupted by obesity-associated genetic variants.

Jamaluddin A et al.

Cell Reports, 2026

Association of Mutations in the Melanocortin-2 Receptor Accessory Protein 2 Gene (MRAP2) and Obesity: A Systematic Review and Meta-Analysis.

Ji RL et al.

International Journal of Molecular Sciences, 2026

41596694 (PubMed )
Supplement: ijms-27-01051-s001.zip › ijms-4049188-supplementary.pdf

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 321.156
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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."