CELF4
CUGBP Elav-like family member 4
Summary
Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1484116623 | 18:34,839,218 | C/A | — | uncertain significance |
| rs2515400162 | 18:34,844,644 | C/G | — | uncertain significance |
| rs78311159 | 18:34,844,668 | C/T | — | benign |
| rs899856119 | 18:34,844,669 | G/A | — | uncertain significance |
| rs145042940 | 18:34,846,518 | G/A | — | likely benign |
| rs759568975 | 18:34,846,520 | C/T | — | uncertain significance |
| rs1486061091 | 18:34,846,539 | G/T | — | uncertain significance |
| rs182148802 | 18:34,846,544 | C/T | — | likely benign |
| rs765790379 | 18:34,850,756 | G/A | — | likely benign |
| rs777172664 | 18:34,850,769 | G/A | — | uncertain significance |
| rs769836710 | 18:34,850,794 | G/A | — | uncertain significance |
| rs773175289 | 18:34,850,803 | C/T | — | likely benign |
| rs146847221 | 18:34,850,818 | C/T | — | benign |
| rs750215578 | 18:34,850,845 | C/T | — | uncertain significance |
| rs1443638 | 18:34,850,846 | G/A | — | benign |
| rs375169163 | 18:34,852,976 | C/T | — | likely benign |
| rs1368349813 | 18:34,852,998 | T/C | — | likely benign |
| rs766190775 | 18:34,853,028 | C/T | — | likely benign |
| rs765103903 | 18:34,853,048 | C/T | — | likely benign |
| rs150441111 | 18:34,853,090 | C/T | — | likely benign |
| rs142389555 | 18:34,853,091 | G/A | — | likely benign |
| rs2517696676 | 18:34,853,120 | G/A | — | uncertain significance |
| rs143810394 | 18:34,854,267 | C/T | — | benign |
| rs2518144616 | 18:34,854,279 | G/A | — | uncertain significance |
| rs561213595 | 18:34,854,283 | G/T | — | conflicting classifications of pathogenicity |
| rs761730967 | 18:34,854,339 | C/T | — | uncertain significance |
| rs186688229 | 18:34,854,569 | C/T | — | uncertain significance |
| rs199540513 | 18:34,854,769 | G/C | — | likely benign |
| rs2092752280 | 18:34,854,770 | G/T | — | uncertain significance |
| rs2518579554 | 18:34,855,108 | T/C | — | uncertain significance |
| rs2518582663 | 18:34,855,114 | A/G | — | uncertain significance |
| rs763527043 | 18:34,855,146 | C/A | — | uncertain significance |
| rs41352348 | 18:34,901,833 | C/T | — | benign |
| rs4799915 | 18:34,928,639 | C/T | intron variant | — |
| rs188403275 | 18:35,015,148 | G/A | intron variant | — |
| rs371812303 | 18:35,065,530 | C/T | — | likely benign |
| rs1786814 | 18:35,077,028 | G/A | intron variant | — |
| rs17750321 | 18:35,078,682 | C/A | intron variant | — |
| rs1557339 | 18:35,129,076 | C/T | — | — |
| rs12607755 | 18:35,134,259 | C/G | — | — |
| rs12967855 | 18:35,138,245 | A/C | — | — |
| rs11082011 | 18:35,145,122 | C/T | regulatory region variant | — |
| rs780570053 | 18:35,145,398 | G/A | — | likely benign |
| rs1555685314 | 18:35,145,531 | C/T | — | uncertain significance |
| rs140670537 | 18:35,145,553 | G/T | — | uncertain significance |
| rs80035064 | 18:35,146,366 | T/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.