NUP214
Chr 9nucleoporin 214
Also known as: CAIN, CAN, IIAE9
The protein is a nucleoporin that forms part of the nuclear pore complex and is essential for nucleocytoplasmic transport and proper cell cycle progression. Mutations cause autosomal recessive acute infection-induced encephalopathy with increased susceptibility during febrile episodes. The gene is highly constrained against loss-of-function variation (LOEUF 0.35), indicating that biallelic mutations likely have severe consequences for cellular function.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NUP214 · 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
Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
RECRUITINGAdipose Tissue and Symptomatic Gonarthrosis
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools