CPSF6
cleavage and polyadenylation specific factor 6
Summary
The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs317630 | 12:69,637,847 | T/C | intron variant | — |
| rs478863 | 12:69,639,207 | G/T | — | — |
| rs10878947 | 12:69,642,683 | A/T | intron variant | — |
| rs1024211546 | 12:69,644,959 | A/G | — | uncertain significance |
| rs607797 | 12:69,646,010 | T/A | — | — |
| rs150030798 | 12:69,646,861 | G/A | — | uncertain significance |
| rs1227467387 | 12:69,646,912 | C/T | — | uncertain significance |
| rs2498984831 | 12:69,650,568 | G/A | — | uncertain significance |
| rs1367649704 | 12:69,651,608 | G/A | — | uncertain significance |
| rs200906163 | 12:69,651,628 | G/A | — | uncertain significance |
| rs61754516 | 12:69,651,670 | C/G | — | uncertain significance |
| rs755647632 | 12:69,651,676 | C/T | — | uncertain significance |
| rs1248836755 | 12:69,652,489 | C/T | — | uncertain significance |
| rs2498989776 | 12:69,652,537 | C/T | — | uncertain significance |
| rs939481174 | 12:69,652,591 | C/G | — | uncertain significance |
| rs2498990287 | 12:69,652,640 | C/T | — | uncertain significance |
| rs1319456781 | 12:69,652,652 | G/A | — | uncertain significance |
| rs1272594701 | 12:69,652,661 | G/C | — | uncertain significance |
| rs867013321 | 12:69,652,822 | C/G | — | uncertain significance |
| rs2498991037 | 12:69,652,871 | G/A | — | uncertain significance |
| rs749608024 | 12:69,653,916 | A/G | — | uncertain significance |
| rs150347597 | 12:69,656,237 | C/A | — | uncertain significance |
| rs751188299 | 12:69,656,306 | G/C | — | uncertain significance |
| rs1438062658 | 12:69,656,319 | C/T | — | uncertain significance |
| rs1463335 | 12:69,667,075 | T/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.