SPIRE1
spire type actin nucleation factor 1
Summary
Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs761806323 | 18:12,449,653 | G/T | — | uncertain significance |
| rs748656009 | 18:12,449,684 | C/G | — | uncertain significance |
| rs376041494 | 18:12,449,696 | T/C | — | likely benign |
| rs752159679 | 18:12,449,761 | C/T | — | uncertain significance |
| rs377342565 | 18:12,452,263 | C/A | — | uncertain significance |
| rs767870576 | 18:12,452,275 | C/T | — | uncertain significance |
| rs756124455 | 18:12,452,279 | G/A | — | uncertain significance |
| rs2510219401 | 18:12,452,288 | T/G | — | uncertain significance |
| rs1263117093 | 18:12,452,318 | C/G | — | uncertain significance |
| rs769420628 | 18:12,452,354 | T/C | — | uncertain significance |
| rs2510224005 | 18:12,454,364 | G/A | — | uncertain significance |
| rs148627675 | 18:12,454,384 | T/A | — | uncertain significance |
| rs368399127 | 18:12,463,394 | C/T | — | uncertain significance |
| rs141286455 | 18:12,463,405 | G/A | — | uncertain significance |
| rs536296853 | 18:12,463,484 | T/C | — | uncertain significance |
| rs368087838 | 18:12,464,876 | T/A | — | uncertain significance |
| rs2510243407 | 18:12,464,879 | A/T | — | uncertain significance |
| rs758262450 | 18:12,479,730 | T/C | — | uncertain significance |
| rs2033023512 | 18:12,485,961 | A/G | — | uncertain significance |
| rs750421889 | 18:12,485,993 | C/T | — | uncertain significance |
| rs574377702 | 18:12,491,960 | C/A | — | — |
| rs759567988 | 18:12,493,083 | G/A | — | uncertain significance |
| rs2510296020 | 18:12,493,125 | C/T | — | uncertain significance |
| rs140647765 | 18:12,506,573 | C/T | — | uncertain significance |
| rs11663391 | 18:12,516,768 | C/A | intron variant | — |
| rs770563908 | 18:12,546,263 | C/T | — | — |
| rs34933611 | 18:12,546,603 | G/A | — | — |
| rs150085674 | 18:12,546,695 | C/T | — | uncertain significance |
| rs148239672 | 18:12,546,778 | A/G | — | likely benign |
| rs754522024 | 18:12,546,899 | A/G | — | uncertain significance |
| rs1940973 | 18:12,550,747 | T/C | intron variant | — |
| rs9959145 | 18:12,606,463 | G/A | — | — |
| rs1030343259 | 18:12,657,552 | G/C | — | uncertain significance |
| rs2038586598 | 18:12,657,558 | T/G | — | uncertain significance |
| rs753247959 | 18:12,657,626 | G/C | — | uncertain significance |
| rs764838304 | 18:12,657,644 | G/A | — | likely benign |
| rs910125954 | 18:12,657,663 | G/A | — | uncertain significance |
| rs2038591397 | 18:12,657,664 | A/C | — | uncertain significance |
| rs1326702893 | 18:12,657,666 | C/T | — | uncertain significance |
| rs1166156051 | 18:12,657,753 | T/C | — | uncertain significance |
| rs1345042382 | 18:12,657,787 | C/G | — | uncertain significance |
| rs1443967327 | 18:12,657,795 | C/T | — | uncertain significance |
| rs577954522 | 18:12,657,855 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.