ADD1
adducin 1
Summary
Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs533007714 | 4:2,864,626 | G/T | — | — |
| rs17833172 | 4:2,868,514 | G/A | regulatory region variant | — |
| rs1731205978 | 4:2,877,643 | A/G | — | likely pathogenic |
| rs773145477 | 4:2,877,670 | G/A | — | uncertain significance |
| rs1433130616 | 4:2,877,678 | A/C | — | likely benign |
| rs140936293 | 4:2,877,687 | G/T | — | benign |
| rs199855248 | 4:2,877,717 | C/T | — | likely benign |
| rs748260808 | 4:2,877,722 | G/T | — | uncertain significance |
| rs749350133 | 4:2,877,740 | C/T | — | uncertain significance |
| rs146519461 | 4:2,877,771 | A/G | — | likely benign |
| rs767976701 | 4:2,883,731 | A/G | — | uncertain significance |
| rs79054532 | 4:2,885,315 | C/T | intron variant | — |
| rs1227623335 | 4:2,886,293 | C/T | — | uncertain significance |
| rs759674972 | 4:2,886,383 | A/G | — | uncertain significance |
| rs2530822495 | 4:2,886,389 | T/C | — | uncertain significance |
| rs9761159 | 4:2,887,539 | G/C | — | — |
| rs12645803 | 4:2,887,584 | G/C | — | — |
| rs1385252961 | 4:2,895,755 | G/A | — | uncertain significance |
| rs929839417 | 4:2,895,758 | C/G | — | uncertain significance |
| rs148183016 | 4:2,896,408 | C/T | — | uncertain significance |
| rs370683439 | 4:2,896,412 | C/T | — | uncertain significance |
| rs112813723 | 4:2,896,419 | G/A | — | benign |
| rs140019569 | 4:2,896,426 | G/A | — | likely benign |
| rs777870723 | 4:2,899,941 | A/G | — | uncertain significance |
| rs144809220 | 4:2,900,006 | T/C | — | benign |
| rs776755028 | 4:2,900,202 | A/T | — | uncertain significance |
| rs1006381446 | 4:2,900,224 | A/C | — | uncertain significance |
| rs145933934 | 4:2,901,061 | C/T | — | uncertain significance |
| rs201570559 | 4:2,901,088 | G/T | — | uncertain significance |
| rs2474077950 | 4:2,901,097 | T/C | — | uncertain significance |
| rs913151449 | 4:2,901,109 | T/C | — | uncertain significance |
| rs145251004 | 4:2,901,153 | C/T | — | likely benign |
| rs138254700 | 4:2,906,523 | T/A | — | benign |
| rs766033361 | 4:2,906,554 | G/A | — | uncertain significance |
| rs747100756 | 4:2,906,602 | G/A | — | uncertain significance |
| rs1183531459 | 4:2,906,624 | C/G | — | uncertain significance |
| rs142830875 | 4:2,906,691 | C/T | — | benign |
| rs4961 | 4:2,906,707 | G/T | missense variant | risk factor |
| rs777763271 | 4:2,906,732 | C/T | — | uncertain significance |
| rs201174055 | 4:2,910,265 | C/T | — | benign |
| rs199531446 | 4:2,910,266 | A/G | — | uncertain significance |
| rs146536048 | 4:2,910,308 | G/A | — | benign |
| rs372341933 | 4:2,910,323 | C/T | — | uncertain significance |
| rs200523186 | 4:2,916,731 | C/T | — | uncertain significance |
| rs4963 | 4:2,916,762 | C/T | missense variant | — |
| rs1263339 | 4:2,917,974 | G/C | intron variant | — |
| rs3021131 | 4:2,918,975 | C/A | intron variant | — |
| rs12647647 | 4:2,919,658 | T/A | intron variant | — |
| rs374663989 | 4:2,927,752 | G/A | — | uncertain significance |
| rs143465381 | 4:2,927,759 | G/A | — | uncertain significance |
| rs769299659 | 4:2,927,795 | C/T | — | uncertain significance |
| rs765171956 | 4:2,928,380 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.