Varaico: Literature-Extracted Genetic Variants

Gene:NUBPL
Variant:p.N198T
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NUBPL

NM_025152.3:p.N198T

Associated Papers

Loss of heterozygosity exposes germline mutations in complex I and drives Warburg metabolism in oncocytic carcinoma of the thyroid.

de la Calle Arregui C et al.

Biorxiv : the Preprint Server for Biology, 2025

Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.

Maclean AE et al.

Human Molecular Genetics, 2018

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
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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."