DNM2
dynamin 2
Summary
Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]
Known Variants1,012 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886054138 | 19:10,828,766 | G/T | — | uncertain significance |
| rs886054139 | 19:10,828,797 | G/A | — | uncertain significance |
| rs966672075 | 19:10,828,803 | C/T | — | uncertain significance |
| rs753599004 | 19:10,828,900 | G/T | — | uncertain significance |
| rs2512931214 | 19:10,828,921 | G/T | — | uncertain significance |
| rs2068817566 | 19:10,828,922 | G/A | — | uncertain significance |
| rs1375606719 | 19:10,828,923 | G/A | — | uncertain significance |
| rs890297188 | 19:10,828,926 | A/G | — | benign |
| rs1202955393 | 19:10,828,928 | C/T | — | uncertain significance |
| rs2068818174 | 19:10,828,934 | A/G | — | uncertain significance |
| rs1008731390 | 19:10,828,937 | G/C | — | uncertain significance |
| rs1435133623 | 19:10,828,938 | A/G | — | uncertain significance |
| rs1249596675 | 19:10,828,948 | C/T | — | likely benign |
| rs1014814501 | 19:10,828,949 | C/T | — | uncertain significance |
| rs2512931338 | 19:10,828,950 | C/T | — | uncertain significance |
| rs779502758 | 19:10,828,951 | G/A | — | likely benign |
| rs2068818839 | 19:10,828,952 | C/G | — | uncertain significance |
| rs1479865077 | 19:10,828,955 | G/A | — | uncertain significance |
| rs2145637630 | 19:10,828,959 | A/G | — | uncertain significance |
| rs2068819118 | 19:10,828,962 | A/G | — | uncertain significance |
| rs2145637652 | 19:10,828,963 | A/G | — | likely benign |
| rs2145637657 | 19:10,828,964 | C/T | — | likely benign |
| rs746688611 | 19:10,828,966 | G/A | — | likely benign |
| rs2068819294 | 19:10,828,972 | C/A | — | uncertain significance |
| rs1599402522 | 19:10,828,975 | C/T | — | likely benign |
| rs763443182 | 19:10,828,981 | C/T | — | likely benign |
| rs2145637734 | 19:10,828,983 | C/G | — | uncertain significance |
| rs906211174 | 19:10,828,984 | C/T | — | likely benign |
| rs1213386129 | 19:10,828,987 | C/A | — | likely benign |
| rs2512931490 | 19:10,828,988 | G/A | — | uncertain significance |
| rs2068819928 | 19:10,828,990 | C/T | — | likely benign |
| rs2068819966 | 19:10,828,995 | G/C | — | uncertain significance |
| rs2068820028 | 19:10,828,997 | T/G | — | uncertain significance |
| rs534605878 | 19:10,828,999 | C/T | — | likely benign |
| rs774962668 | 19:10,829,001 | A/T | — | uncertain significance |
| rs1344949726 | 19:10,829,006 | G/A | — | uncertain significance |
| rs759919549 | 19:10,829,008 | C/G | — | uncertain significance |
| rs2512931576 | 19:10,829,009 | C/T | — | likely benign |
| rs2145637847 | 19:10,829,013 | C/T | — | uncertain significance |
| rs767726067 | 19:10,829,014 | G/T | — | likely benign |
| rs2512931610 | 19:10,829,017 | G/A | — | likely benign |
| rs552741402 | 19:10,829,020 | C/G | — | uncertain significance |
| rs760980172 | 19:10,829,023 | T/A | — | likely benign |
| rs2512931662 | 19:10,829,027 | G/T | — | uncertain significance |
| rs1266406781 | 19:10,829,032 | C/A | — | likely benign |
| rs1425173670 | 19:10,829,044 | C/A | — | uncertain significance |
| rs753989925 | 19:10,829,060 | C/T | — | conflicting classifications of pathogenicity |
| rs757121012 | 19:10,829,067 | A/G | — | conflicting classifications of pathogenicity |
| rs1295054396 | 19:10,829,078 | C/G | — | uncertain significance |
| rs1555696272 | 19:10,829,082 | G/A | — | uncertain significance |
| rs2068821980 | 19:10,829,085 | C/T | — | uncertain significance |
| rs2145638077 | 19:10,829,086 | G/T | — | likely benign |
| rs2512931917 | 19:10,829,093 | G/A | — | likely benign |
| rs778544871 | 19:10,829,094 | C/G | — | likely benign |
| rs116956287 | 19:10,829,201 | C/A | — | likely benign |
| rs113305450 | 19:10,829,307 | C/G | — | benign |
| rs75654370 | 19:10,829,327 | G/C | — | likely benign |
| rs892086 | 19:10,837,677 | G/A | intron variant | — |
| rs11671653 | 19:10,838,486 | G/T | — | — |
| rs1529744 | 19:10,841,472 | T/C | intron variant | — |
| rs12459870 | 19:10,841,584 | C/T | intron variant | — |
| rs145778785 | 19:10,853,977 | C/T | intron variant | — |
| rs60794082 | 19:10,854,766 | G/A | intron variant | — |
| rs12459943 | 19:10,859,508 | G/A | regulatory region variant | — |
| rs77997860 | 19:10,862,501 | C/G | intron variant | — |
| rs142434385 | 19:10,866,689 | A/G | intron variant | — |
| rs573469750 | 19:10,870,398 | T/C | — | likely benign |
| rs902418908 | 19:10,870,399 | C/T | — | likely benign |
| rs779337610 | 19:10,870,401 | C/T | — | likely benign |
| rs746299224 | 19:10,870,402 | C/T | — | likely benign |
| rs200736669 | 19:10,870,405 | C/A | — | conflicting classifications of pathogenicity |
| rs747484495 | 19:10,870,406 | C/A | — | likely benign |
| rs148318860 | 19:10,870,407 | C/T | — | likely benign |
| rs762111033 | 19:10,870,414 | G/C | — | uncertain significance |
| rs587778234 | 19:10,870,416 | A/G | — | not provided |
| rs2513091746 | 19:10,870,420 | C/T | — | likely benign |
| rs773480707 | 19:10,870,426 | C/T | — | likely benign |
| rs1203982104 | 19:10,870,427 | C/T | — | uncertain significance |
| rs762795230 | 19:10,870,429 | C/T | — | likely benign |
| rs149555942 | 19:10,870,435 | A/G | — | likely benign |
| rs938075320 | 19:10,870,439 | A/G | — | uncertain significance |
| rs371493258 | 19:10,870,441 | C/T | — | likely benign |
| rs144250390 | 19:10,870,442 | G/A | — | conflicting classifications of pathogenicity |
| rs192573717 | 19:10,870,448 | C/T | — | uncertain significance |
| rs1568283807 | 19:10,870,449 | G/A | — | uncertain significance |
| rs752080566 | 19:10,870,452 | G/A | — | uncertain significance |
| rs2145855703 | 19:10,870,457 | C/T | — | uncertain significance |
| rs755642825 | 19:10,870,460 | A/G | — | uncertain significance |
| rs878854149 | 19:10,870,462 | T/C | — | conflicting classifications of pathogenicity |
| rs375324714 | 19:10,870,465 | G/A | — | likely benign |
| rs368075301 | 19:10,870,468 | G/A | — | conflicting classifications of pathogenicity |
| rs372012614 | 19:10,870,471 | C/A | — | likely benign |
| rs2145855757 | 19:10,870,483 | A/C | — | uncertain significance |
| rs747545894 | 19:10,870,486 | A/G | — | uncertain significance |
| rs1427346478 | 19:10,870,491 | A/G | — | uncertain significance |
| rs113192269 | 19:10,870,493 | A/G | — | likely benign |
| rs369596325 | 19:10,870,496 | G/T | — | likely benign |
| rs769906659 | 19:10,870,497 | G/A | — | conflicting classifications of pathogenicity |
| rs147026993 | 19:10,870,499 | A/C | — | conflicting classifications of pathogenicity |
| rs201274056 | 19:10,870,500 | G/A | — | likely benign |
Showing 100 of 1,012 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.