ASNSD1
Chr 2asparagine synthetase domain containing 1
Also known as: NBLA00058, NS3TP1
This protein is predicted to function as an asparagine synthase, catalyzing asparagine biosynthesis from glutamine. The gene is extremely intolerant to loss-of-function variants (pLI ~1.0), suggesting that mutations likely cause severe developmental disorders, though specific disease associations have not yet been established. Predicted involvement in adipose and skeletal muscle development suggests potential impacts on growth and metabolic function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ASNSD1 · 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