Phosphodiesterase 6D (PDE6D) Associated conditions: 1. Joubert syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001291018.2 | NP_001277947.1 | NC_000002.12 | (231732432..231781281, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_002601.4 | NP_002592.1 | NC_000002.12 | (231732432..231781281, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NR_110994.2 | - | NC_000002.12 | (231732432..231781281, 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 Phosphodiesterase 6D (PDE6D) 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 | enables | GTPase inhibitor activity | Function | - |
| 2 | Homo sapiens | ISS | enables | GTPase inhibitor activity | Function | - |
| 3 | Homo sapiens | IPI | enables | protein binding | Function | 9712853 9990021 11980706 16169070 16189514 18588884 21516116 23559067 25416956 25519916 26455799 27107012 27173435 28514442 30257685 31515488 32296183 33961781 35271311 |
| 4 | Homo sapiens | IBA | is_active_in | cytoplasm | Component | - |
| 5 | Homo sapiens | IDA | located_in | cytosol | Component | 9712853 |
| 6 | Homo sapiens | IEA | located_in | cytosol | Component | - |
| 7 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 8 | Homo sapiens | TAS | located_in | cilium | Component | - |
| 9 | Homo sapiens | IEA | involved_in | visual perception | Process | - |
| 10 | Homo sapiens | TAS | involved_in | visual perception | Process | 9570951 |
| 11 | Homo sapiens | IEA | located_in | cytoplasmic vesicle membrane | Component | - |
| 12 | Homo sapiens | IPI | enables | small GTPase binding | Function | 9712853 |
| 13 | Homo sapiens | IDA | located_in | cytoplasmic vesicle | Component | 9712853 |
| 14 | Homo sapiens | IEA | located_in | cytoplasmic vesicle | Component | - |
| 15 | Homo sapiens | IEA | involved_in | sensory perception of light stimulus | Process | - |