SNIP1
Chr 1ARSmad nuclear interacting protein 1
Also known as: NEDHCS, PML1, PMRED
The SNIP1 protein functions as a transcriptional coactivator that modulates c-Myc, TGF-beta, and NF-kappa-B signaling pathways, and serves as a component of the spliceosome required for pre-mRNA splicing. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures. This condition involves the central nervous system and craniofacial development, with seizures and developmental delays as prominent features.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SNIP1 · 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