DDX41
DEAD-box helicase 41
Summary
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]
Known Variants471 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750795230 | 5:176,938,598 | T/C | — | uncertain significance |
| rs867695519 | 5:176,938,611 | G/C | — | uncertain significance |
| rs337395 | 5:176,938,695 | G/A | — | likely benign |
| rs78923296 | 5:176,938,718 | G/A | — | likely benign |
| rs937006672 | 5:176,938,729 | A/G | — | uncertain significance |
| rs73804364 | 5:176,938,789 | G/A | — | likely benign |
| rs372352153 | 5:176,938,791 | C/T | — | likely benign |
| rs1760956325 | 5:176,938,793 | C/T | — | uncertain significance |
| rs1391161237 | 5:176,938,807 | G/A | — | likely benign |
| rs771535420 | 5:176,938,811 | T/C | — | conflicting classifications of pathogenicity |
| rs2532071934 | 5:176,938,825 | C/T | — | likely benign |
| rs763471166 | 5:176,938,833 | C/T | — | uncertain significance |
| rs771561040 | 5:176,938,834 | G/A | — | likely benign |
| rs554721122 | 5:176,938,867 | G/A | — | likely benign |
| rs1167946851 | 5:176,938,872 | T/C | — | uncertain significance |
| rs2532072244 | 5:176,938,902 | C/A | — | uncertain significance |
| rs753613824 | 5:176,938,906 | G/A | — | likely benign |
| rs148650463 | 5:176,938,921 | G/A | — | likely benign |
| rs778787490 | 5:176,938,922 | C/T | — | uncertain significance |
| rs750355279 | 5:176,938,931 | G/A | — | uncertain significance |
| rs1760967435 | 5:176,938,948 | G/A | — | likely benign |
| rs28464438 | 5:176,939,051 | T/C | — | benign |
| rs531222773 | 5:176,939,078 | G/T | — | benign |
| rs1181517880 | 5:176,939,083 | C/T | — | likely benign |
| rs370389758 | 5:176,939,084 | G/A | — | likely benign |
| rs1458442961 | 5:176,939,091 | A/C | — | uncertain significance |
| rs2532073533 | 5:176,939,120 | T/C | — | uncertain significance |
| rs551266040 | 5:176,939,125 | G/A | — | likely benign |
| rs781182074 | 5:176,939,136 | C/A | — | uncertain significance |
| rs746326361 | 5:176,939,145 | C/T | — | uncertain significance |
| rs140652745 | 5:176,939,146 | G/A | — | likely benign |
| rs776128416 | 5:176,939,149 | C/T | — | likely benign |
| rs2532073754 | 5:176,939,150 | G/A | — | uncertain significance |
| rs969403252 | 5:176,939,161 | C/A | — | uncertain significance |
| rs1356103698 | 5:176,939,164 | G/A | — | conflicting classifications of pathogenicity |
| rs747056004 | 5:176,939,179 | C/T | — | conflicting classifications of pathogenicity |
| rs146668975 | 5:176,939,185 | G/A | — | likely benign |
| rs200471726 | 5:176,939,210 | G/A | — | conflicting classifications of pathogenicity |
| rs374359854 | 5:176,939,212 | G/C | — | likely benign |
| rs73334184 | 5:176,939,227 | G/C | — | benign |
| rs192781459 | 5:176,939,287 | A/C | — | likely benign |
| rs575209364 | 5:176,939,305 | C/T | — | likely benign |
| rs561035914 | 5:176,939,314 | C/T | — | benign |
| rs780474603 | 5:176,939,317 | A/G | — | uncertain significance |
| rs2127435833 | 5:176,939,318 | C/A | — | conflicting classifications of pathogenicity |
| rs368999712 | 5:176,939,320 | C/T | — | conflicting classifications of pathogenicity |
| rs2532074746 | 5:176,939,333 | G/A | — | likely benign |
| rs781715363 | 5:176,939,342 | G/A | — | likely benign |
| rs748197124 | 5:176,939,345 | A/C | — | likely benign |
| rs769966092 | 5:176,939,351 | G/A | — | likely benign |
| rs2532074874 | 5:176,939,355 | C/T | — | uncertain significance |
| rs1581802660 | 5:176,939,359 | T/C | — | uncertain significance |
| rs774299454 | 5:176,939,367 | G/A | — | uncertain significance |
| rs869312828 | 5:176,939,370 | C/T | — | uncertain significance |
| rs1761006621 | 5:176,939,374 | C/T | — | uncertain significance |
| rs371427065 | 5:176,939,375 | G/A | — | likely benign |
| rs2532075001 | 5:176,939,379 | C/T | — | conflicting classifications of pathogenicity |
| rs748983205 | 5:176,939,381 | G/A | — | conflicting classifications of pathogenicity |
| rs2532075057 | 5:176,939,398 | C/G | — | likely benign |
| rs116110377 | 5:176,939,418 | C/G | — | likely benign |
| rs2532075469 | 5:176,939,478 | T/C | — | likely benign |
| rs767997296 | 5:176,939,482 | G/A | — | likely benign |
| rs2532075488 | 5:176,939,488 | G/C | — | likely benign |
| rs145507265 | 5:176,939,489 | G/A | — | benign |
| rs1014402897 | 5:176,939,499 | T/C | — | conflicting classifications of pathogenicity |
| rs772902682 | 5:176,939,508 | A/G | — | uncertain significance |
| rs2532075577 | 5:176,939,514 | T/C | — | uncertain significance |
| rs199756165 | 5:176,939,518 | G/A | — | uncertain significance |
| rs753078023 | 5:176,939,536 | C/T | — | uncertain significance |
| rs756656167 | 5:176,939,537 | G/A | — | likely benign |
| rs2532075672 | 5:176,939,552 | G/T | — | uncertain significance |
| rs148853192 | 5:176,939,567 | G/A | — | likely benign |
| rs757449267 | 5:176,939,575 | C/T | — | uncertain significance |
| rs151018711 | 5:176,939,576 | G/A | — | likely benign |
| rs2532075721 | 5:176,939,581 | T/C | — | uncertain significance |
| rs1481876340 | 5:176,939,588 | T/C | — | conflicting classifications of pathogenicity |
| rs780011110 | 5:176,939,605 | C/T | — | uncertain significance |
| rs200307685 | 5:176,939,610 | C/T | — | uncertain significance |
| rs768638631 | 5:176,939,611 | G/A | — | uncertain significance |
| rs2532075852 | 5:176,939,618 | C/A | — | uncertain significance |
| rs2532075878 | 5:176,939,623 | T/A | — | uncertain significance |
| rs2532075895 | 5:176,939,631 | G/A | — | uncertain significance |
| rs1329727523 | 5:176,939,635 | G/A | — | uncertain significance |
| rs1167876899 | 5:176,939,662 | C/T | — | likely benign |
| rs28544348 | 5:176,939,688 | C/T | — | benign |
| rs335436 | 5:176,939,735 | A/G | — | benign |
| rs373651337 | 5:176,939,763 | T/A | — | likely benign |
| rs1468654127 | 5:176,939,764 | G/A | — | likely benign |
| rs200374307 | 5:176,939,771 | C/T | — | likely benign |
| rs766760626 | 5:176,939,785 | G/A | — | uncertain significance |
| rs748765304 | 5:176,939,803 | G/A | — | likely benign |
| rs140816118 | 5:176,939,812 | C/G | — | likely benign |
| rs143421709 | 5:176,939,826 | G/A | — | likely benign |
| rs138792438 | 5:176,939,833 | G/A | — | likely benign |
| rs536241208 | 5:176,939,842 | G/A | — | likely benign |
| rs554494724 | 5:176,939,848 | G/A | — | conflicting classifications of pathogenicity |
| rs1761039131 | 5:176,939,871 | T/C | — | uncertain significance |
| rs767835537 | 5:176,939,872 | G/A | — | conflicting classifications of pathogenicity |
| rs2532076907 | 5:176,939,880 | G/A | — | uncertain significance |
| rs764631159 | 5:176,939,883 | C/T | — | uncertain significance |
Showing 100 of 471 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.