N4BP2L1
Chr 13NEDD4 binding protein 2 like 1
Also known as: CG018
N4BP2L1 encodes a protein that may function in adipocyte differentiation and triglyceride accumulation, though its precise role remains unclear. The gene is highly constrained against loss-of-function variants (pLI = 0.84, LOEUF = 0.45), suggesting that mutations would likely cause developmental or neurological phenotypes, but specific associated diseases have not yet been definitively established in the literature.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
76 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 45 | 0 | 45 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 19 | 5 | 0 | 24 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 20 | 50 | 0 | 70 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
N4BP2L1 · 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