ARF1
Chr 1ADARF GTPase 1
Also known as: PVNH8
ADP-ribosylation factor 1 functions as a small GTPase that regulates protein trafficking between cellular compartments, particularly modulating vesicle budding and uncoating within the Golgi complex and playing roles in synaptic plasticity through AMPA receptor trafficking. Mutations cause periventricular nodular heterotopia 8, a brain malformation disorder with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have severe consequences.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ARF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools