Varaico: Literature-Extracted Genetic Variants

Gene:USP18
Variant:p.I60N
Back to variants list

USP18

NM_017414.4:p.I60N

Associated Papers

Interferons in human inborn errors of disease.

Stine L et al.

Mbio, 2025

Novel USP18 mutations lead to severe interferonopathy responsive to JAK inhibitor.

Sun X et al.

Frontiers in Immunology, 2025

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.

Khavandegar A et al.

The Journal of Allergy and Clinical Immunology, 2024

Type I interferon regulation by USP18 is a key vulnerability in cancer.

Jové V et al.

Iscience, 2024

Inborn errors of immunity: an expanding universe of disease and genetic architecture.

Akalu YT et al.

Nature Reviews. Genetics, 2024

A partial form of inherited human USP18 deficiency underlies infection and inflammation.

Martin-Fernandez M et al.

The Journal of Experimental Medicine, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."