XPO6
exportin 6
Summary
The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs775522622 | 16:28,113,239 | C/T | — | uncertain significance |
| rs765572341 | 16:28,115,873 | G/C | — | uncertain significance |
| rs374690954 | 16:28,117,402 | C/T | — | uncertain significance |
| rs1394522845 | 16:28,117,446 | T/C | — | uncertain significance |
| rs35178107 | 16:28,117,487 | C/T | — | benign |
| rs1469836772 | 16:28,117,776 | C/T | — | uncertain significance |
| rs752102050 | 16:28,118,881 | A/C | — | uncertain significance |
| rs11557749 | 16:28,118,969 | C/T | — | uncertain significance |
| rs745862947 | 16:28,123,198 | C/A | — | uncertain significance |
| rs205384 | 16:28,123,226 | G/C | missense variant | — |
| rs1433696503 | 16:28,123,308 | C/T | — | uncertain significance |
| rs369766569 | 16:28,128,703 | G/A | — | uncertain significance |
| rs1439827455 | 16:28,128,712 | C/T | — | uncertain significance |
| rs201507990 | 16:28,133,103 | T/G | intron variant | — |
| rs201657764 | 16:28,137,151 | G/A | — | uncertain significance |
| rs2548189754 | 16:28,143,670 | C/G | — | uncertain significance |
| rs751632811 | 16:28,145,235 | C/T | — | uncertain significance |
| rs2548191892 | 16:28,146,571 | A/C | — | uncertain significance |
| rs749921443 | 16:28,146,641 | C/T | — | uncertain significance |
| rs1056102089 | 16:28,157,433 | T/A | — | uncertain significance |
| rs1188246817 | 16:28,164,015 | A/G | — | uncertain significance |
| rs201964759 | 16:28,164,102 | T/C | — | uncertain significance |
| rs371228100 | 16:28,167,564 | C/G | — | uncertain significance |
| rs758995499 | 16:28,167,789 | T/A | — | uncertain significance |
| rs918418372 | 16:28,177,832 | T/A | — | uncertain significance |
| rs781632203 | 16:28,177,846 | G/A | — | uncertain significance |
| rs537478385 | 16:28,177,886 | C/T | — | uncertain significance |
| rs377178961 | 16:28,177,906 | C/T | — | uncertain significance |
| rs1403962694 | 16:28,181,154 | C/T | — | uncertain significance |
| rs2548218116 | 16:28,188,650 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.