U2AF1
U2 small nuclear RNA auxiliary factor 1
Summary
This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1450304522 | 21:44,513,292 | C/T | — | uncertain significance |
| rs761520409 | 21:44,513,298 | C/T | — | uncertain significance |
| rs371246226 | 21:44,514,777 | T/G | missense variant | pathogenic |
| rs371769427 | 21:44,524,456 | G/A | missense variant | uncertain significance |
| rs139959814 | 21:44,524,458 | G/A | — | benign |
| rs186155253 | 21:44,525,165 | A/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.