MED22
mediator complex subunit 22
Summary
This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150208587 | 9:136,205,575 | G/A | upstream gene variant | — |
| rs141908130 | 9:136,208,136 | G/A | upstream gene variant | — |
| rs144767798 | 9:136,208,384 | C/T | — | uncertain significance |
| rs145949119 | 9:136,208,437 | G/A | — | uncertain significance |
| rs781993856 | 9:136,208,468 | C/G | — | uncertain significance |
| rs377491975 | 9:136,208,470 | G/A | — | uncertain significance |
| rs75461307 | 9:136,208,483 | C/T | missense variant | — |
| rs373755320 | 9:136,208,507 | C/T | — | uncertain significance |
| rs782713097 | 9:136,208,508 | G/A | — | likely benign |
| rs782207393 | 9:136,211,056 | C/T | — | uncertain significance |
| rs587604931 | 9:136,211,077 | G/A | — | uncertain significance |
| rs587706084 | 9:136,211,185 | G/A | stop gained | — |
| rs587637463 | 9:136,212,029 | T/C | — | uncertain significance |
| rs1318768760 | 9:136,212,098 | C/G | — | uncertain significance |
| rs147738139 | 9:136,212,855 | G/A | upstream gene variant | — |
| rs1836188144 | 9:136,213,441 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.