ZNF346
zinc finger protein 346
Summary
The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. It plays a role in protecting neurons by inhibiting cell cycle re-entry via stimulation of p21 gene expression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs770336571 | 5:176,449,759 | C/G | — | likely benign |
| rs941370318 | 5:176,449,803 | A/C | — | uncertain significance |
| rs370147753 | 5:176,449,804 | G/C | — | uncertain significance |
| rs763882992 | 5:176,449,821 | G/A | — | uncertain significance |
| rs2533426350 | 5:176,449,837 | G/A | — | uncertain significance |
| rs1030542788 | 5:176,449,863 | C/T | — | uncertain significance |
| rs2533428056 | 5:176,449,909 | A/G | — | uncertain significance |
| rs58400555 | 5:176,454,081 | A/C | — | — |
| rs353486 | 5:176,460,654 | G/A | intron variant | — |
| rs554619519 | 5:176,464,113 | G/T | — | — |
| rs115162792 | 5:176,464,363 | C/T | intron variant | — |
| rs34933909 | 5:176,465,270 | G/T | — | — |
| rs754377651 | 5:176,468,140 | C/G | — | uncertain significance |
| rs748064088 | 5:176,468,214 | A/G | — | uncertain significance |
| rs202040011 | 5:176,471,459 | G/A | — | uncertain significance |
| rs2533666525 | 5:176,471,498 | A/G | — | uncertain significance |
| rs541035816 | 5:176,472,900 | T/G | — | — |
| rs251844 | 5:176,476,605 | T/A | regulatory region variant | — |
| rs553469347 | 5:176,477,823 | C/T | — | uncertain significance |
| rs2533739768 | 5:176,477,877 | A/G | — | uncertain significance |
| rs144916400 | 5:176,477,925 | A/G | — | uncertain significance |
| rs569411242 | 5:176,479,119 | T/C | — | — |
| rs6878050 | 5:176,481,144 | G/A | downstream gene variant | — |
| rs545713413 | 5:176,490,595 | C/G | — | — |
| rs779802657 | 5:176,491,583 | A/G | — | uncertain significance |
| rs183686 | 5:176,494,102 | A/T | — | — |
| rs191641865 | 5:176,496,180 | A/G | downstream gene variant | — |
| rs569553088 | 5:176,498,305 | G/A | — | — |
| rs244715 | 5:176,503,563 | A/C | — | — |
| rs190332039 | 5:176,504,946 | G/C | intron variant | — |
| rs187912170 | 5:176,506,238 | A/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.