NIPSNAP3A
Chr 9nipsnap homolog 3A
Also known as: HSPC299, NIPSNAP4, TASSC
NIPSNAP3A encodes a protein involved in vesicular transport processes within cells. Mutations cause autosomal recessive developmental delays, intellectual disability, and seizures with onset in infancy or early childhood. The gene shows minimal constraint against loss-of-function variants, which is consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NIPSNAP3A · 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