ELAVL1
ELAV like RNA binding protein 1
Summary
The protein encoded by this gene is a member of the ELAVL family of RNA-binding proteins that contain several RNA recognition motifs, and selectively bind AU-rich elements (AREs) found in the 3' untranslated regions of mRNAs. AREs signal degradation of mRNAs as a means to regulate gene expression, thus by binding AREs, the ELAVL family of proteins play a role in stabilizing ARE-containing mRNAs. This gene has been implicated in a variety of biological processes and has been linked to a number of diseases, including cancer. It is highly expressed in many cancers, and could be potentially useful in cancer diagnosis, prognosis, and therapy. [provided by RefSeq, Sep 2012]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199976454 | 19:8,028,450 | T/A | — | uncertain significance |
| rs2512405243 | 19:8,028,521 | A/C | — | uncertain significance |
| rs2512405295 | 19:8,028,576 | C/A | — | uncertain significance |
| rs3826740 | 19:8,032,432 | G/A | — | benign |
| rs2512407621 | 19:8,032,567 | T/C | — | uncertain significance |
| rs1077340 | 19:8,032,680 | C/T | — | benign |
| rs983059793 | 19:8,034,218 | G/A | — | — |
| rs573464021 | 19:8,034,812 | A/C | — | — |
| rs201280427 | 19:8,038,647 | C/T | — | uncertain significance |
| rs529280370 | 19:8,051,444 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.