Varaico: Literature-Extracted Genetic Variants

Gene:ISG15
Variant:p.L131P
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ISG15

NM_005101.4:p.L131P

Associated Papers

A novel homozygous ISG15 missense variant leads to severe inflammatory skin lesions, interstitial pneumonia, and basal ganglia calcifications in a Chinese infant with ISG15 deficiency.

Zhang X et al.

Gene, 2025

ISGylation directly modifies hypoxia-inducible factor-2α and enhances its polysome association.

Melanson G et al.

Febs Letters, 2022

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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."