POM121
Chr 7POM121 transmembrane nucleoporin
Also known as: P145, POM121A
The protein is a transmembrane component of the nuclear pore complex that anchors the complex to the nuclear envelope and mediates nuclear transport. Mutations cause autosomal recessive developmental delay with dysmorphic facies and dental anomalies, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to haploinsufficiency.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
ClinVar Variant Classifications
147 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 | 24 | 0 | 24 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 80 | 3 | 0 | 83 |
Likely Benign | 1 | 9 | 0 | 1 | 11 |
Benign | 0 | 4 | 2 | 1 | 7 |
| Total | 1 | 93 | 32 | 2 | 128 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
POM121 · 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