QKI
QKI, KH domain containing RNA binding
Summary
The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2757578 | 6:163,836,376 | C/T | — | benign |
| rs2784867 | 6:163,840,529 | A/G | regulatory region variant | — |
| rs73015318 | 6:163,853,539 | C/T | — | — |
| rs814143 | 6:163,854,303 | G/T | intron variant | — |
| rs2759398 | 6:163,885,951 | T/A | intron variant | — |
| rs757904409 | 6:163,899,879 | G/C | — | uncertain significance |
| rs1737612 | 6:163,904,512 | G/A | intron variant | — |
| rs199556427 | 6:163,983,092 | A/G | — | uncertain significance |
| rs776903328 | 6:163,984,511 | C/T | — | uncertain significance |
| rs777858938 | 6:163,987,774 | G/A | — | uncertain significance |
| rs1157899721 | 6:163,991,729 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.