NUP54
nucleoporin 54
Summary
The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2476032227 | 4:77,036,533 | C/T | — | uncertain significance |
| rs2476033079 | 4:77,036,623 | G/A | — | no classification for the single variant |
| rs2476033290 | 4:77,036,629 | C/T | — | no classification for the single variant |
| rs765028638 | 4:77,045,840 | T/C | — | pathogenic |
| rs778145820 | 4:77,045,854 | T/C | — | uncertain significance |
| rs776306424 | 4:77,045,893 | A/C | — | pathogenic |
| rs769247955 | 4:77,045,894 | T/C | — | uncertain significance |
| rs781439709 | 4:77,051,886 | T/C | — | uncertain significance |
| rs2476114546 | 4:77,053,773 | T/C | — | uncertain significance |
| rs370241180 | 4:77,053,781 | C/T | — | likely benign |
| rs61750814 | 4:77,053,834 | T/C | missense variant | — |
| rs773932047 | 4:77,055,443 | C/T | — | uncertain significance |
| rs772666099 | 4:77,055,480 | A/C | — | uncertain significance |
| rs200614065 | 4:77,057,438 | C/G | — | uncertain significance |
| rs964658641 | 4:77,065,388 | G/C | — | uncertain significance |
| rs1015270133 | 4:77,065,548 | G/C | — | uncertain significance |
| rs2476164638 | 4:77,065,608 | C/T | — | uncertain significance |
| rs770684863 | 4:77,069,469 | G/T | — | uncertain significance |
| rs1578702577 | 4:77,069,488 | T/C | — | uncertain significance |
| rs774252852 | 4:77,069,506 | G/A | — | uncertain significance |
| rs2476184325 | 4:77,069,511 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.