DHX8
DEAH-box helicase 8
Summary
This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs772366722 | 17:41,561,409 | G/T | — | uncertain significance |
| rs759644929 | 17:41,561,431 | G/T | — | uncertain significance |
| rs752894787 | 17:41,561,433 | G/T | — | uncertain significance |
| rs149731910 | 17:41,561,460 | G/A | — | uncertain significance |
| rs201325129 | 17:41,561,545 | A/G | — | uncertain significance |
| rs2154586312 | 17:41,566,829 | T/C | — | uncertain significance |
| rs192576222 | 17:41,566,879 | G/A | — | uncertain significance |
| rs2543907162 | 17:41,567,810 | G/A | — | uncertain significance |
| rs1968496329 | 17:41,568,547 | C/T | — | uncertain significance |
| rs1401740074 | 17:41,570,057 | C/T | — | uncertain significance |
| rs1359023439 | 17:41,570,068 | A/C | — | uncertain significance |
| rs191977650 | 17:41,570,071 | C/T | — | uncertain significance |
| rs143316763 | 17:41,570,078 | G/A | — | uncertain significance |
| rs1170889314 | 17:41,570,104 | G/C | — | uncertain significance |
| rs745477265 | 17:41,570,126 | G/A | — | uncertain significance |
| rs772490499 | 17:41,570,138 | A/T | — | uncertain significance |
| rs765884874 | 17:41,570,279 | A/T | — | uncertain significance |
| rs1968628499 | 17:41,570,348 | A/G | — | uncertain significance |
| rs200639945 | 17:41,570,404 | C/G | — | uncertain significance |
| rs754952693 | 17:41,570,857 | A/C | — | uncertain significance |
| rs765756648 | 17:41,571,105 | G/A | — | uncertain significance |
| rs987259552 | 17:41,582,057 | T/C | — | uncertain significance |
| rs1356293050 | 17:41,582,105 | A/T | — | uncertain significance |
| rs201103199 | 17:41,584,374 | G/A | — | uncertain significance |
| rs771214345 | 17:41,585,002 | C/T | — | likely benign |
| rs948565500 | 17:41,585,256 | A/G | — | uncertain significance |
| rs2544009830 | 17:41,585,730 | G/A | — | uncertain significance |
| rs199626884 | 17:41,597,494 | C/A | — | likely benign |
| rs1443099986 | 17:41,597,633 | C/T | — | uncertain significance |
| rs35620635 | 17:41,598,230 | G/A | — | uncertain significance |
| rs2154586898 | 17:41,598,737 | G/A | — | uncertain significance |
| rs989304808 | 17:41,598,893 | G/T | — | uncertain significance |
| rs1431529131 | 17:41,599,470 | A/G | — | uncertain significance |
| rs57190812 | 17:41,600,986 | C/T | — | benign |
| rs530555010 | 17:41,644,826 | A/G | — | — |
| rs2343132 | 17:41,655,069 | T/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.