Varaico: Literature-Extracted Genetic Variants

Gene:ARF1
Variant:p.W78*
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ARF1

NM_001658.4:p.W78*

Associated Papers

ARF1-Related Diseases in China: The Initial Study of Phenotype and Molecular Profile.

Lian R et al.

Journal of Cellular and Molecular Medicine, 2025

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

37914730 (PubMed )
Supplement: 41467_2023_42150_MOESM7_ESM.pdf

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

Ishida M et al.

Human Molecular Genetics, 2023

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.

Gana S et al.

Journal of Medical Genetics, 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."