ZNRF1
zinc and ring finger 1
Summary
This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs34899243 | 16:75,032,732 | G/C | — | benign |
| rs8053898 | 16:75,033,297 | C/T | — | benign |
| rs1347549606 | 16:75,033,652 | C/T | — | uncertain significance |
| rs2507532477 | 16:75,033,684 | A/G | — | likely benign |
| rs2507532620 | 16:75,033,718 | C/G | — | uncertain significance |
| rs1168758596 | 16:75,033,729 | G/A | — | uncertain significance |
| rs369609063 | 16:75,033,749 | C/G | — | uncertain significance |
| rs763411299 | 16:75,033,831 | G/C | — | uncertain significance |
| rs1240412674 | 16:75,033,859 | A/G | — | uncertain significance |
| rs371146283 | 16:75,033,871 | A/G | — | uncertain significance |
| rs376693655 | 16:75,033,892 | G/C | — | uncertain significance |
| rs767247737 | 16:75,033,982 | G/C | — | uncertain significance |
| rs6564195 | 16:75,034,133 | A/G | — | benign |
| rs34462287 | 16:75,034,214 | A/C | — | benign |
| rs78986461 | 16:75,045,062 | C/G | intron variant | — |
| rs62059200 | 16:75,127,261 | C/T | — | benign |
| rs2036166043 | 16:75,127,474 | C/G | — | uncertain significance |
| rs1432668146 | 16:75,127,476 | A/C | — | uncertain significance |
| rs759276133 | 16:75,138,703 | C/T | — | uncertain significance |
| rs2287989 | 16:75,138,927 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.