CNOT9
CCR4-NOT transcription complex subunit 9
Summary
This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs589967 | 2:219,445,165 | T/C | intron variant | — |
| rs2469453674 | 2:219,445,395 | C/G | — | likely pathogenic |
| rs2469453679 | 2:219,445,396 | G/A | — | uncertain significance |
| rs1057519956 | 2:219,447,748 | T/C | missense variant | — |
| rs1057519957 | 2:219,447,749 | C/G | missense variant | — |
| rs1057519955 | 2:219,449,405 | C/T | missense variant | — |
| rs267599211 | 2:219,449,406 | C/T | missense variant | pathogenic |
| rs673764 | 2:219,453,097 | C/T | downstream gene variant | — |
| rs600057 | 2:219,456,737 | A/G | upstream gene variant | — |
| rs2469475477 | 2:219,457,379 | G/A | — | pathogenic |
| rs981210817 | 2:219,458,973 | C/T | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.