SNX14
Chr 6ARsorting nexin 14
Also known as: RGS-PX2, SCAR20
This protein maintains normal neuronal excitability and synaptic transmission through intracellular trafficking functions, specifically binding phosphatidylinositol 3,5-bisphosphate and mediating autophagosome clearance by facilitating lysosome-autophagosome fusion. Mutations cause spinocerebellar ataxia, autosomal recessive 20 through an autosomal recessive inheritance pattern. The pathogenic mechanism is predicted to involve gain-of-function effects.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SNX14 · 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