SETD6
SET domain containing 6, protein lysine methyltransferase
Summary
This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs780618162 | 16:58,549,466 | C/T | — | uncertain significance |
| rs1353872820 | 16:58,549,791 | G/A | — | uncertain significance |
| rs747505535 | 16:58,549,803 | G/A | — | likely benign |
| rs1008746793 | 16:58,549,845 | C/T | — | uncertain significance |
| rs2543758921 | 16:58,549,894 | G/T | — | uncertain significance |
| rs1271673885 | 16:58,549,911 | A/G | — | uncertain significance |
| rs4784046 | 16:58,549,932 | T/C | synonymous variant | — |
| rs749462801 | 16:58,549,944 | C/T | — | uncertain significance |
| rs185639574 | 16:58,550,052 | G/T | regulatory region variant | — |
| rs771760548 | 16:58,550,126 | C/T | — | uncertain significance |
| rs371010569 | 16:58,550,172 | A/G | — | uncertain significance |
| rs780023277 | 16:58,550,180 | G/A | — | uncertain significance |
| rs200835277 | 16:58,550,196 | C/G | — | uncertain significance |
| rs147467868 | 16:58,550,386 | G/A | — | likely benign |
| rs138913683 | 16:58,550,543 | A/G | — | uncertain significance |
| rs760082716 | 16:58,550,545 | C/T | — | uncertain significance |
| rs1198922038 | 16:58,550,554 | G/C | — | uncertain significance |
| rs1169322207 | 16:58,550,575 | A/G | — | uncertain significance |
| rs748829120 | 16:58,550,785 | A/G | — | uncertain significance |
| rs772468371 | 16:58,550,806 | C/T | — | uncertain significance |
| rs1207691895 | 16:58,551,965 | G/A | — | uncertain significance |
| rs757863905 | 16:58,551,992 | A/G | — | uncertain significance |
| rs780679825 | 16:58,552,038 | A/T | — | uncertain significance |
| rs148482512 | 16:58,552,045 | C/G | — | uncertain significance |
| rs756770200 | 16:58,552,397 | A/C | — | uncertain significance |
| rs149879960 | 16:58,552,680 | G/A | — | uncertain significance |
| rs775653104 | 16:58,552,685 | G/C | — | uncertain significance |
| rs1318505855 | 16:58,552,788 | C/T | — | uncertain significance |
| rs36085499 | 16:58,552,845 | C/T | — | likely benign |
| rs759747644 | 16:58,552,865 | C/G | — | uncertain significance |
| rs758715927 | 16:58,552,914 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.