Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.P431L
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IFNGR1

NM_000416.3:p.P431L

Associated Papers

Type-2 immune skewing in patients with disseminated coccidioidomycosis.

Thauland TJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.

Al Qureshah F et al.

The Journal of Experimental Medicine, 2025

39680367 (PubMed )
Supplement: jem_20241413_tables3.xlsx › Sheet1

Base editing screens map mutations affecting interferon-γ signaling in cancer.

Coelho MA et al.

Cancer Cell, 2023

36669486 (PubMed )
Supplement: mmc4.xlsx › BE_variants_-clinical_relevance
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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."