CELF2
CUGBP Elav-like family member 2
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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2265023 | 10:10,534,952 | C/T | intergenic variant | — |
| rs7924306 | 10:10,573,209 | G/C | — | — |
| rs186900626 | 10:10,591,001 | A/G | intergenic variant | — |
| rs11256676 | 10:10,601,860 | A/G | intergenic variant | — |
| rs758849898 | 10:10,639,594 | C/T | — | — |
| rs530716884 | 10:10,662,329 | C/G | — | — |
| rs7092313 | 10:10,689,602 | C/T | intergenic variant | — |
| rs769354275 | 10:10,692,302 | T/G | — | — |
| rs563513788 | 10:10,791,028 | G/A | — | — |
| rs117432838 | 10:10,838,851 | A/T | — | benign |
| rs369822439 | 10:10,838,871 | G/A | — | likely benign |
| rs1006764903 | 10:10,840,737 | T/G | — | likely benign |
| rs544567095 | 10:10,851,961 | A/G | — | — |
| rs118184393 | 10:10,888,094 | G/A | — | likely benign |
| rs7904832 | 10:10,912,189 | C/G | — | — |
| rs10795831 | 10:10,943,379 | G/A | — | — |
| rs190253214 | 10:10,961,933 | G/A | — | likely benign |
| rs11256914 | 10:10,961,971 | G/A | — | benign |
| rs10905868 | 10:10,974,256 | A/G | downstream gene variant | — |
| rs62209 | 10:11,000,339 | G/A | — | — |
| rs200779130 | 10:11,047,400 | T/C | — | likely benign |
| rs2540049019 | 10:11,047,404 | G/A | — | uncertain significance |
| rs2057580233 | 10:11,060,054 | T/A | — | uncertain significance |
| rs1291846 | 10:11,107,195 | A/G | intron variant | — |
| rs1054266228 | 10:11,151,340 | C/T | — | — |
| rs4750019 | 10:11,151,880 | C/G | intron variant | — |
| rs547541271 | 10:11,160,415 | C/T | — | — |
| rs7084963 | 10:11,197,679 | T/C | intron variant | — |
| rs2546599909 | 10:11,207,501 | G/A | — | uncertain significance |
| rs2546601834 | 10:11,207,595 | A/G | — | uncertain significance |
| rs2133355531 | 10:11,207,619 | G/A | — | uncertain significance |
| rs596406 | 10:11,224,665 | T/C | intron variant | — |
| rs577233700 | 10:11,259,399 | G/T | — | uncertain significance |
| rs2547822653 | 10:11,259,405 | T/G | — | uncertain significance |
| rs3740194 | 10:11,297,309 | T/G | — | — |
| rs2548609998 | 10:11,299,799 | T/A | — | uncertain significance |
| rs1390133796 | 10:11,299,803 | G/A | — | uncertain significance |
| rs756418814 | 10:11,308,593 | A/G | — | uncertain significance |
| rs2138380322 | 10:11,308,619 | G/A | — | uncertain significance |
| rs2138616482 | 10:11,312,719 | C/T | — | pathogenic |
| rs2548891611 | 10:11,312,747 | A/T | — | uncertain significance |
| rs2548891766 | 10:11,312,756 | G/T | — | uncertain significance |
| rs2549299383 | 10:11,330,381 | G/T | — | uncertain significance |
| rs376016545 | 10:11,330,416 | C/G | — | uncertain significance |
| rs2549300829 | 10:11,330,443 | A/G | — | uncertain significance |
| rs41291249 | 10:11,330,462 | A/G | — | likely benign |
| rs2549302443 | 10:11,330,519 | A/T | — | uncertain significance |
| rs7076008 | 10:11,348,961 | T/A | — | — |
| rs201674366 | 10:11,356,100 | A/T | — | likely pathogenic |
| rs2549652379 | 10:11,356,128 | G/A | — | uncertain significance |
| rs1591512334 | 10:11,363,146 | G/T | — | likely benign |
| rs2549835426 | 10:11,363,173 | T/C | — | uncertain significance |
| rs767822043 | 10:11,363,280 | G/A | — | uncertain significance |
| rs2550092076 | 10:11,370,957 | G/A | — | uncertain significance |
| rs2132785331 | 10:11,370,966 | C/G | — | pathogenic |
| rs2132785456 | 10:11,370,967 | G/A | — | pathogenic |
| rs2550092400 | 10:11,370,973 | A/C | — | uncertain significance |
| rs2132786780 | 10:11,371,008 | C/T | — | pathogenic |
| rs2550093059 | 10:11,371,009 | C/T | — | uncertain significance |
| rs764892258 | 10:11,371,013 | C/G | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.