DAAM1
dishevelled associated activator of morphogenesis 1
Summary
Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012]
Known Variants65 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4901906 | 14:59,654,649 | C/T | regulatory region variant | — |
| rs79360654 | 14:59,658,600 | C/A | regulatory region variant | — |
| rs143720575 | 14:59,663,805 | G/A | intron variant | — |
| rs75255901 | 14:59,669,037 | C/T | intron variant | — |
| rs17095953 | 14:59,719,393 | G/A | regulatory region variant | — |
| rs2503059062 | 14:59,730,219 | A/G | — | likely benign |
| rs2503059153 | 14:59,730,235 | A/G | — | uncertain significance |
| rs34733575 | 14:59,730,342 | T/C | — | benign |
| rs565947904 | 14:59,755,578 | A/C | — | — |
| rs2503170647 | 14:59,782,004 | G/A | — | uncertain significance |
| rs145787738 | 14:59,787,262 | A/G | — | conflicting classifications of pathogenicity |
| rs372804956 | 14:59,789,629 | G/A | — | uncertain significance |
| rs1300155953 | 14:59,789,639 | G/A | — | uncertain significance |
| rs1885071447 | 14:59,789,678 | A/G | — | uncertain significance |
| rs149324121 | 14:59,789,680 | G/A | — | uncertain significance |
| rs761811745 | 14:59,789,696 | G/A | — | uncertain significance |
| rs8022614 | 14:59,789,727 | G/A | — | benign |
| rs564090602 | 14:59,789,857 | G/A | — | uncertain significance |
| rs17096074 | 14:59,789,892 | G/T | — | benign |
| rs774385213 | 14:59,791,159 | T/C | — | uncertain significance |
| rs61755642 | 14:59,792,755 | A/G | — | benign |
| rs139756687 | 14:59,793,253 | G/T | — | uncertain significance |
| rs765384602 | 14:59,793,273 | G/T | — | uncertain significance |
| rs145334981 | 14:59,793,359 | G/A | — | uncertain significance |
| rs749038803 | 14:59,793,363 | G/T | — | uncertain significance |
| rs1401344690 | 14:59,793,691 | G/A | — | uncertain significance |
| rs41285510 | 14:59,797,213 | G/A | — | benign |
| rs941884 | 14:59,797,235 | A/G | — | benign |
| rs1370462045 | 14:59,797,249 | A/G | — | uncertain significance |
| rs760422783 | 14:59,797,260 | G/A | — | uncertain significance |
| rs28927674 | 14:59,797,373 | G/A | — | benign |
| rs17096104 | 14:59,797,415 | T/G | — | benign |
| rs951757010 | 14:59,797,940 | C/A | — | uncertain significance |
| rs1313760049 | 14:59,798,003 | G/T | — | uncertain significance |
| rs781426332 | 14:59,798,034 | T/A | — | likely benign |
| rs368794329 | 14:59,798,036 | T/C | — | uncertain significance |
| rs373008354 | 14:59,798,063 | C/A | — | uncertain significance |
| rs150384804 | 14:59,798,099 | C/A | — | uncertain significance |
| rs775311579 | 14:59,798,129 | C/T | — | uncertain significance |
| rs144149282 | 14:59,798,152 | C/T | — | benign |
| rs150600380 | 14:59,798,154 | A/G | — | benign |
| rs763253274 | 14:59,798,221 | C/A | — | uncertain significance |
| rs760649573 | 14:59,805,111 | T/C | — | likely benign |
| rs1374477863 | 14:59,806,814 | A/G | — | uncertain significance |
| rs1366796835 | 14:59,806,860 | T/C | — | likely benign |
| rs141994965 | 14:59,814,321 | C/G | — | uncertain significance |
| rs780276345 | 14:59,819,337 | T/C | — | uncertain significance |
| rs139950837 | 14:59,820,190 | G/A | intron variant | — |
| rs61755340 | 14:59,821,936 | C/T | — | benign |
| rs144886720 | 14:59,821,988 | A/G | — | uncertain significance |
| rs144346553 | 14:59,822,044 | A/G | — | uncertain significance |
| rs61740455 | 14:59,826,182 | A/C | — | benign |
| rs1886677982 | 14:59,827,558 | G/C | — | uncertain significance |
| rs181920728 | 14:59,827,588 | T/C | — | likely benign |
| rs200150249 | 14:59,830,402 | C/G | — | uncertain significance |
| rs202107366 | 14:59,830,430 | G/A | — | uncertain significance |
| rs2503305507 | 14:59,834,195 | C/G | — | uncertain significance |
| rs2503305592 | 14:59,834,211 | G/A | — | uncertain significance |
| rs199742099 | 14:59,834,304 | G/A | — | uncertain significance |
| rs753779506 | 14:59,835,393 | G/A | — | uncertain significance |
| rs142026760 | 14:59,835,401 | A/G | — | uncertain significance |
| rs1459538467 | 14:59,835,513 | A/G | — | uncertain significance |
| rs555785924 | 14:59,835,515 | C/T | — | uncertain significance |
| rs199646971 | 14:59,835,516 | G/A | — | uncertain significance |
| rs79036859 | 14:59,835,975 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.