RBM45
RNA binding motif protein 45
Summary
This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs770898461 | 2:178,977,302 | G/T | — | uncertain significance |
| rs764322049 | 2:178,977,554 | A/C | — | uncertain significance |
| rs139412077 | 2:178,982,906 | G/A | — | uncertain significance |
| rs755298569 | 2:178,985,972 | C/T | — | uncertain significance |
| rs2468390029 | 2:178,986,034 | A/G | — | uncertain significance |
| rs115290266 | 2:178,988,287 | A/T | — | uncertain significance |
| rs111740883 | 2:178,988,298 | A/G | — | benign |
| rs146044729 | 2:178,988,319 | G/A | — | benign |
| rs574520764 | 2:178,988,327 | C/T | — | uncertain significance |
| rs372335848 | 2:178,988,339 | T/C | — | uncertain significance |
| rs146621378 | 2:178,988,340 | A/G | — | uncertain significance |
| rs570468892 | 2:178,988,612 | G/C | — | uncertain significance |
| rs1473237490 | 2:178,988,936 | C/G | — | uncertain significance |
| rs145011008 | 2:178,990,780 | T/C | synonymous variant | — |
| rs1474216702 | 2:178,990,815 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.