NUP210 Chromosome 3
Nucleoporin 210
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What This Gene Does
The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
Nucleoporins
Locus Type
gene with protein product
Location
3p25.1
Ensembl
ENSG00000132182
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145799181 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149566955 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746638562 | Health Risk | Conflicting classifications of pathogenicity | — |