DBN1
drebrin 1
Summary
The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs181426392 | 5:176,884,677 | C/G | — | uncertain significance |
| rs1211748081 | 5:176,884,682 | G/A | — | uncertain significance |
| rs779857635 | 5:176,884,715 | G/A | — | uncertain significance |
| rs115828652 | 5:176,885,055 | G/A | — | benign |
| rs751453583 | 5:176,885,255 | C/A | — | uncertain significance |
| rs749558347 | 5:176,885,279 | G/A | — | uncertain significance |
| rs180961453 | 5:176,885,285 | G/A | — | likely benign |
| rs370757482 | 5:176,885,325 | C/T | — | uncertain significance |
| rs757617494 | 5:176,885,336 | G/A | — | uncertain significance |
| rs762624139 | 5:176,885,402 | A/G | — | uncertain significance |
| rs748935744 | 5:176,885,433 | C/T | — | uncertain significance |
| rs143633279 | 5:176,885,508 | C/T | — | likely benign |
| rs529598779 | 5:176,885,520 | C/T | — | uncertain significance |
| rs771132639 | 5:176,885,529 | C/T | — | uncertain significance |
| rs371013163 | 5:176,885,544 | C/T | — | uncertain significance |
| rs760746471 | 5:176,885,585 | G/A | — | uncertain significance |
| rs746526803 | 5:176,885,676 | C/T | — | uncertain significance |
| rs186219130 | 5:176,885,731 | G/C | downstream gene variant | — |
| rs34692220 | 5:176,886,119 | G/T | — | uncertain significance |
| rs569806768 | 5:176,886,156 | C/G | — | uncertain significance |
| rs1329822841 | 5:176,886,164 | C/T | — | uncertain significance |
| rs2481189508 | 5:176,886,186 | G/C | — | uncertain significance |
| rs149274225 | 5:176,886,211 | C/T | — | benign |
| rs1421717271 | 5:176,886,216 | T/G | — | uncertain significance |
| rs200475259 | 5:176,886,219 | G/A | — | uncertain significance |
| rs116548591 | 5:176,886,229 | G/A | — | benign |
| rs377045843 | 5:176,886,249 | G/A | — | uncertain significance |
| rs2545795 | 5:176,887,106 | A/C | downstream gene variant | — |
| rs759150690 | 5:176,887,460 | C/A | — | uncertain significance |
| rs767231273 | 5:176,887,461 | A/T | — | uncertain significance |
| rs139280919 | 5:176,887,669 | C/T | — | uncertain significance |
| rs200457435 | 5:176,893,778 | T/C | — | uncertain significance |
| rs376817792 | 5:176,893,813 | G/A | — | uncertain significance |
| rs1757482459 | 5:176,893,916 | G/T | — | uncertain significance |
| rs76383896 | 5:176,893,932 | C/T | — | likely benign |
| rs146597348 | 5:176,893,942 | C/T | — | benign |
| rs1322008021 | 5:176,894,275 | T/C | — | uncertain significance |
| rs761794569 | 5:176,894,290 | C/T | — | uncertain significance |
| rs1757528778 | 5:176,894,484 | C/T | — | uncertain significance |
| rs758971267 | 5:176,894,513 | C/T | — | uncertain significance |
| rs149833219 | 5:176,894,560 | G/A | — | benign |
| rs765581713 | 5:176,894,582 | G/A | — | uncertain significance |
| rs1348886387 | 5:176,894,622 | C/T | — | uncertain significance |
| rs370125813 | 5:176,895,123 | C/T | — | uncertain significance |
| rs200091717 | 5:176,895,201 | A/C | — | uncertain significance |
| rs74649270 | 5:176,895,226 | G/A | — | benign |
| rs2481243385 | 5:176,895,851 | A/T | — | uncertain significance |
| rs140602328 | 5:176,895,870 | A/G | — | benign |
| rs2481243526 | 5:176,895,877 | C/T | — | uncertain significance |
| rs752157474 | 5:176,895,879 | A/T | — | uncertain significance |
| rs534258422 | 5:176,896,777 | C/T | — | — |
| rs923096048 | 5:176,900,444 | C/T | — | uncertain significance |
| rs371071053 | 5:176,900,562 | C/T | regulatory region variant | — |
| rs2630763 | 5:176,901,005 | T/A | regulatory region variant | — |
| rs190463485 | 5:176,901,670 | G/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.