DDX6
DEAD-box helicase 6
Summary
This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs185189816 | 11:118,622,369 | A/G | downstream gene variant | — |
| rs6589689 | 11:118,622,744 | G/A | — | benign |
| rs3825057 | 11:118,622,985 | T/C | — | benign |
| rs1170463312 | 11:118,625,425 | G/A | — | uncertain significance |
| rs1860907201 | 11:118,625,477 | T/C | — | uncertain significance |
| rs2137411793 | 11:118,625,479 | T/A | — | uncertain significance |
| rs2501251784 | 11:118,625,518 | T/C | — | uncertain significance |
| rs2501252079 | 11:118,625,537 | G/C | — | uncertain significance |
| rs2501252725 | 11:118,625,588 | C/T | — | uncertain significance |
| rs580079 | 11:118,625,609 | C/T | — | benign |
| rs2501263723 | 11:118,626,156 | A/G | — | uncertain significance |
| rs2501264063 | 11:118,626,186 | G/C | — | uncertain significance |
| rs1860933779 | 11:118,626,200 | C/T | — | pathogenic |
| rs1555158525 | 11:118,626,201 | G/A | — | uncertain significance |
| rs1591885290 | 11:118,626,971 | G/A | — | pathogenic |
| rs1591885297 | 11:118,626,972 | T/G | — | pathogenic |
| rs1591885305 | 11:118,626,975 | A/G | — | pathogenic |
| rs782274778 | 11:118,626,987 | G/A | — | conflicting classifications of pathogenicity |
| rs1591885383 | 11:118,627,025 | C/T | — | pathogenic |
| rs1591885401 | 11:118,627,028 | T/C | — | pathogenic |
| rs2501296630 | 11:118,627,938 | G/A | — | likely pathogenic |
| rs2501296946 | 11:118,627,954 | G/A | — | uncertain significance |
| rs2137424033 | 11:118,627,959 | G/C | — | uncertain significance |
| rs782386385 | 11:118,627,979 | C/A | — | likely benign |
| rs782597476 | 11:118,629,520 | C/T | — | uncertain significance |
| rs2501319751 | 11:118,629,536 | C/T | — | uncertain significance |
| rs1861067939 | 11:118,629,588 | A/C | — | uncertain significance |
| rs187477392 | 11:118,629,615 | G/C | — | likely benign |
| rs193251825 | 11:118,629,619 | G/A | — | benign |
| rs532634727 | 11:118,629,624 | C/T | — | uncertain significance |
| rs376979325 | 11:118,633,933 | T/G | — | likely benign |
| rs782553341 | 11:118,633,973 | A/G | — | uncertain significance |
| rs367848491 | 11:118,634,019 | T/C | — | likely benign |
| rs2137451978 | 11:118,634,028 | T/C | — | uncertain significance |
| rs2501404361 | 11:118,635,970 | G/A | — | uncertain significance |
| rs2137461113 | 11:118,635,976 | A/G | — | uncertain significance |
| rs369123795 | 11:118,635,997 | T/C | — | uncertain significance |
| rs181485554 | 11:118,643,870 | A/C | intron variant | — |
| rs1382901504 | 11:118,650,379 | T/C | — | uncertain significance |
| rs61756275 | 11:118,650,388 | G/A | — | benign |
| rs1555164635 | 11:118,651,853 | T/G | — | uncertain significance |
| rs116239239 | 11:118,656,770 | G/T | — | likely benign |
| rs2501635222 | 11:118,656,782 | T/C | — | uncertain significance |
| rs1862065272 | 11:118,656,810 | T/C | — | uncertain significance |
| rs367679076 | 11:118,656,827 | A/C | — | uncertain significance |
| rs1862066817 | 11:118,656,854 | G/C | — | uncertain significance |
| rs756634095 | 11:118,656,872 | C/G | — | uncertain significance |
| rs2501637805 | 11:118,656,924 | C/A | — | uncertain significance |
| rs372147541 | 11:118,656,935 | G/A | — | likely benign |
| rs2105782 | 11:118,659,896 | T/C | intron variant | — |
| rs12796102 | 11:118,662,028 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.