FBL
fibrillarin rRNA 2'-O-methyltransferase
Summary
This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs561590821 | 19:40,326,975 | G/T | — | — |
| rs367930851 | 19:40,327,236 | G/A | — | uncertain significance |
| rs373070183 | 19:40,328,362 | C/T | — | uncertain significance |
| rs1210775617 | 19:40,328,440 | C/T | — | uncertain significance |
| rs775084179 | 19:40,329,676 | G/A | — | uncertain significance |
| rs751551472 | 19:40,329,743 | C/T | — | uncertain significance |
| rs1358495124 | 19:40,329,751 | T/C | — | uncertain significance |
| rs2513376675 | 19:40,331,259 | C/T | — | uncertain significance |
| rs1414848625 | 19:40,331,275 | C/T | — | uncertain significance |
| rs139541583 | 19:40,331,278 | C/T | — | uncertain significance |
| rs751231945 | 19:40,331,331 | C/G | — | uncertain significance |
| rs550579932 | 19:40,331,352 | C/G | — | uncertain significance |
| rs1969147093 | 19:40,331,362 | C/G | — | uncertain significance |
| rs762429726 | 19:40,331,377 | G/A | — | uncertain significance |
| rs1969148296 | 19:40,331,391 | C/A | — | uncertain significance |
| rs199718221 | 19:40,331,399 | G/A | — | benign |
| rs201900949 | 19:40,331,413 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.