CCDC6
coiled-coil domain containing 6
Summary
This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1053266 | 10:61,552,692 | G/T | missense variant | — |
| rs61740504 | 10:61,552,763 | A/G | — | benign |
| rs764143588 | 10:61,552,843 | A/T | — | uncertain significance |
| rs374978744 | 10:61,552,856 | C/T | — | uncertain significance |
| rs754442755 | 10:61,564,187 | T/G | — | uncertain significance |
| rs144848013 | 10:61,566,789 | C/G | — | uncertain significance |
| rs2070631160 | 10:61,566,791 | C/G | — | uncertain significance |
| rs2492613579 | 10:61,572,397 | T/G | — | uncertain significance |
| rs1315471718 | 10:61,572,515 | G/A | — | uncertain significance |
| rs141265324 | 10:61,572,524 | A/G | — | uncertain significance |
| rs775541001 | 10:61,572,525 | C/T | — | uncertain significance |
| rs143441008 | 10:61,574,480 | A/G | — | benign |
| rs2070843521 | 10:61,592,341 | A/C | — | uncertain significance |
| rs150156231 | 10:61,592,403 | A/G | — | benign |
| rs550148605 | 10:61,595,948 | C/G | — | — |
| rs6479655 | 10:61,597,231 | A/G | intron variant | — |
| rs1171819 | 10:61,647,153 | C/T | intron variant | — |
| rs1125168 | 10:61,656,893 | G/A | — | — |
| rs540106812 | 10:61,666,041 | C/T | — | uncertain significance |
| rs199731732 | 10:61,666,065 | C/T | — | uncertain significance |
| rs2492732171 | 10:61,666,089 | C/T | — | uncertain significance |
| rs762472389 | 10:61,666,143 | C/A | — | uncertain significance |
| rs895364091 | 10:61,666,146 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.