ARGLU1
arginine and glutamate rich 1
Summary
Enables pre-mRNA binding activity and transcription coactivator activity. Involved in regulation of alternative mRNA splicing, via spliceosome. Located in cytosol; mitochondrion; and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200630944 | 13:107,196,344 | T/C | — | likely benign |
| rs762450750 | 13:107,211,793 | T/C | — | uncertain significance |
| rs199711363 | 13:107,211,797 | C/T | — | benign |
| rs372308355 | 13:107,211,889 | C/T | — | uncertain significance |
| rs1192379148 | 13:107,220,055 | G/C | — | uncertain significance |
| rs1842071975 | 13:107,220,074 | A/C | — | uncertain significance |
| rs2501673996 | 13:107,220,081 | T/G | — | uncertain significance |
| rs2501674065 | 13:107,220,096 | A/C | — | uncertain significance |
| rs759617578 | 13:107,220,169 | G/C | — | uncertain significance |
| rs573491268 | 13:107,220,220 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.