NFRKB
Chr 11nuclear factor related to kappaB binding protein
Also known as: INO80G
The protein binds to specific DNA sequences and functions in chromatin remodeling and regulation of chromosome organization as part of the Ino80 complex. NFRKB mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.368), suggesting some intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
282 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 | 73 | 0 | 73 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 166 | 0 | 0 | 166 |
Likely Benign | 0 | 6 | 0 | 3 | 9 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 0 | 172 | 78 | 3 | 254 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NFRKB · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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