RD3 regulator of GUCY2D (RD3) Associated conditions: 1. Leber congenital amaurosis
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001164688.2 | NP_001158160.1 | NC_000001.11 | (211476521..211492161, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_183059.3 | NP_898882.1 | NC_000001.11 | (211476521..211492161, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information RD3 regulator of GUCY2D (RD3) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | located_in | photoreceptor outer segment | Component | - |
| 2 | Homo sapiens | ISS | located_in | photoreceptor outer segment | Component | - |
| 3 | Homo sapiens | IEA | located_in | photoreceptor inner segment | Component | - |
| 4 | Homo sapiens | ISS | located_in | photoreceptor inner segment | Component | - |
| 5 | Homo sapiens | IPI | enables | protein binding | Function | 21078983 25416956 29515371 31515488 32296183 |
| 6 | Homo sapiens | IDA | located_in | nucleus | Component | 29030614 |
| 7 | Homo sapiens | IEA | located_in | nucleus | Component | - |
| 8 | Homo sapiens | IDA | located_in | cytoplasm | Component | 29030614 |
| 9 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 10 | Homo sapiens | IEA | located_in | endosome | Component | - |
| 11 | Homo sapiens | IEA | involved_in | visual perception | Process | - |
| 12 | Homo sapiens | ISS | involved_in | visual perception | Process | - |
| 13 | Homo sapiens | IMP | involved_in | protein transport | Process | 21928830 |
| 14 | Homo sapiens | IMP | involved_in | negative regulation of guanylate cyclase activity | Process | 21928830 30559291 |
| 15 | Homo sapiens | IDA | located_in | perinuclear region of cytoplasm | Component | 29030614 |
| 16 | Homo sapiens | IEA | located_in | perinuclear region of cytoplasm | Component | - |
| 17 | Homo sapiens | IBA | involved_in | retina development in camera-type eye | Process | - |
| 18 | Homo sapiens | ISS | involved_in | retina development in camera-type eye | Process | - |
| 19 | Homo sapiens | IEA | located_in | cone photoreceptor outer segment | Component | - |
| 20 | Homo sapiens | IEA | located_in | rod photoreceptor outer segment | Component | - |