Varaico: Literature-Extracted Genetic Variants

Gene:ARF1
Variant:p.R99C
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ARF1

NM_001658.4:p.R99C

Associated Papers

Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress.

Schulert GS

Pediatric Rheumatology Online Journal, 2025

STING: a multifaced player in cellular homeostasis.

Song K et al.

Human Molecular Genetics, 2025

Distinct pathogenic mutations in ARF1 allow dissection of its dual role in cGAS-STING signalling.

Lang J et al.

Embo Reports, 2025

Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.

Ishiguro T et al.

Journal of Biochemistry, 2024

Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.

Amezquita J et al.

Biorxiv : the Preprint Server for Biology, 2023

38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants

ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.

Hirschenberger M et al.

Nature Communications, 2023

ARF1-related disorder: phenotypic and molecular spectrum.

de Sainte Agathe JM et al.

Journal of Medical Genetics, 2023

A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.

Ishida M et al.

Human Molecular Genetics, 2023

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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."