CEP43
centrosomal protein 43
Summary
This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1382585198 | 6:167,412,917 | C/T | — | uncertain significance |
| rs781684395 | 6:167,412,933 | G/T | — | uncertain significance |
| rs377203926 | 6:167,412,949 | C/T | — | uncertain significance |
| rs1347473455 | 6:167,412,985 | G/T | — | uncertain significance |
| rs139512248 | 6:167,413,597 | T/G | — | uncertain significance |
| rs778898380 | 6:167,416,687 | A/T | — | uncertain significance |
| rs17856383 | 6:167,416,712 | A/G | — | uncertain significance |
| rs2483315037 | 6:167,416,731 | A/C | — | uncertain significance |
| rs140062109 | 6:167,417,266 | T/G | — | uncertain significance |
| rs2483316707 | 6:167,417,267 | A/T | — | uncertain significance |
| rs9459835 | 6:167,417,551 | G/C | coding sequence variant | — |
| rs142365952 | 6:167,417,764 | G/A | — | uncertain significance |
| rs150980464 | 6:167,417,775 | G/T | — | uncertain significance |
| rs139592603 | 6:167,417,786 | G/A | — | uncertain significance |
| rs528148538 | 6:167,417,851 | C/T | — | uncertain significance |
| rs755746985 | 6:167,417,887 | G/A | — | uncertain significance |
| rs191321479 | 6:167,421,819 | A/G | intron variant | — |
| rs201601284 | 6:167,422,623 | T/G | — | — |
| rs1260863681 | 6:167,424,367 | A/G | — | uncertain significance |
| rs752070485 | 6:167,427,018 | G/A | — | uncertain significance |
| rs369501965 | 6:167,427,022 | G/C | — | uncertain significance |
| rs148348463 | 6:167,435,941 | G/C | — | uncertain significance |
| rs1321341345 | 6:167,435,951 | A/C | — | uncertain significance |
| rs1468764692 | 6:167,436,021 | T/C | — | uncertain significance |
| rs374496644 | 6:167,436,062 | G/A | — | uncertain significance |
| rs1472126653 | 6:167,436,110 | A/G | — | uncertain significance |
| rs139805975 | 6:167,436,431 | C/T | intron variant | — |
| rs2301436 | 6:167,437,988 | C/T | intron variant | — |
| rs34544438 | 6:167,438,292 | G/C | — | benign |
| rs373826808 | 6:167,438,314 | C/T | — | uncertain significance |
| rs144758821 | 6:167,438,326 | C/A | — | uncertain significance |
| rs1324901668 | 6:167,438,344 | G/T | — | uncertain significance |
| rs147558146 | 6:167,440,064 | C/G | — | uncertain significance |
| rs764048848 | 6:167,440,094 | C/G | — | uncertain significance |
| rs112278986 | 6:167,443,379 | T/G | intron variant | — |
| rs754191594 | 6:167,446,122 | T/A | — | uncertain significance |
| rs148854844 | 6:167,453,457 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.