NUFIP1
Chr 13nuclear FMR1 interacting protein 1
Also known as: NUFIP, Rsa1, bA540M5.1
This nuclear RNA binding protein interacts with fragile X mental retardation protein (FMRP), regulates RNA polymerase II transcription, and participates in snoRNP biogenesis. Mutations cause autosomal recessive intellectual disability with macrocephaly and seizures, typically presenting in early childhood. The gene shows minimal constraint against loss-of-function variants in population databases.
Some data sources returned errors (1)
epmc: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NUFIP1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools