RNF19A
ring finger protein 19A, RBR E3 ubiquitin protein ligase
Summary
This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs774326075 | 8:101,270,839 | T/C | — | uncertain significance |
| rs567250945 | 8:101,270,896 | T/C | — | likely benign |
| rs774770215 | 8:101,271,016 | T/A | — | uncertain significance |
| rs1052871971 | 8:101,271,026 | T/C | — | uncertain significance |
| rs34606154 | 8:101,271,043 | C/T | — | uncertain significance |
| rs776310282 | 8:101,271,170 | G/C | — | uncertain significance |
| rs368674512 | 8:101,271,214 | T/C | — | uncertain significance |
| rs2489716407 | 8:101,271,235 | G/A | — | uncertain significance |
| rs202025017 | 8:101,271,241 | T/C | — | uncertain significance |
| rs376332157 | 8:101,271,359 | C/T | — | uncertain significance |
| rs2489719761 | 8:101,271,371 | T/C | — | uncertain significance |
| rs770359833 | 8:101,271,395 | C/T | — | uncertain significance |
| rs1468970883 | 8:101,272,086 | C/G | — | uncertain significance |
| rs373580322 | 8:101,272,178 | C/T | — | uncertain significance |
| rs762549381 | 8:101,273,789 | T/C | — | uncertain significance |
| rs764700005 | 8:101,273,812 | G/A | — | uncertain significance |
| rs1195746156 | 8:101,276,995 | C/T | — | uncertain significance |
| rs138968684 | 8:101,277,003 | C/T | — | likely benign |
| rs761419050 | 8:101,287,216 | G/A | — | uncertain significance |
| rs10103544 | 8:101,295,070 | T/C | intron variant | — |
| rs2439458 | 8:101,297,984 | T/A | — | — |
| rs958880201 | 8:101,299,757 | A/T | — | uncertain significance |
| rs73282731 | 8:101,299,812 | C/T | — | benign |
| rs770688162 | 8:101,299,838 | G/C | — | uncertain significance |
| rs770741186 | 8:101,300,029 | T/C | — | uncertain significance |
| rs371171725 | 8:101,300,110 | T/C | — | uncertain significance |
| rs1183614953 | 8:101,300,168 | G/A | — | uncertain significance |
| rs149891168 | 8:101,300,222 | T/G | — | uncertain significance |
| rs766146507 | 8:101,300,318 | T/C | — | uncertain significance |
| rs1371867 | 8:101,330,209 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.