| Entrez Gene ID | 56907 |
|---|---|
| Official Gene Symbol | SPIRE1 (GeneCards) |
| Full name | spire type actin nucleation factor 1 |
| Location | 18p11.21 |
| Other ids | Vega : OTTHUMG00000153940 MIM : 609216 HGNC : HGNC:30622 Ensembl : ENSG00000134278 |
| Other names | Spir-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] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 20340 | 56907 | SPIRE1 | 18 | 12603777 | 12603777 | Asymptomatic | HiSeq X Ten |
| 29181 | 56907 | SPIRE1 | 18 | 12496079 | 12496079 | Autism Spectrum Disorders | HiSeq X Ten PASM |