RPGR interacting protein 1 (RPGRIP1) Associated conditions: 1. Retinitis pigmentosa 2. Leber congenital amaurosis
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001377523.1 | NP_001364452.1 | NC_000014.9 | (21280082..21351300) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001377948.1 | NP_001364877.1 | NC_000014.9 | (21280082..21351300) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001377949.1 | NP_001364878.1 | NC_000014.9 | (21280082..21351300) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001377950.1 | NP_001364879.1 | NC_000014.9 | (21280082..21351300) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001377951.1 | NP_001364880.1 | NC_000014.9 | (21280082..21351300) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_020366.4 | NP_065099.3 | NC_000014.9 | (21280082..21351300) | 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 RPGR interacting protein 1 (RPGRIP1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene RPGR interacting protein 1 (RPGRIP1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IPI | enables | protein binding | Function | 16339905 21224891 25398945 25416956 25910212 26638075 26871637 27107014 27173435 31515488 |
| 2 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 3 | Homo sapiens | IEA | located_in | cytoskeleton | Component | - |
| 4 | Homo sapiens | IDA | located_in | cilium | Component | - |
| 5 | Homo sapiens | IEA | located_in | cilium | Component | - |
| 6 | Homo sapiens | IEA | located_in | axoneme | Component | - |
| 7 | Homo sapiens | IEA | involved_in | visual perception | Process | - |
| 8 | Homo sapiens | IBA | is_active_in | photoreceptor connecting cilium | Component | - |
| 9 | Homo sapiens | IEA | located_in | photoreceptor connecting cilium | Component | - |
| 10 | Homo sapiens | ISS | located_in | photoreceptor connecting cilium | Component | - |
| 11 | Homo sapiens | IBA | involved_in | retinal rod cell development | Process | - |
| 12 | Homo sapiens | IDA | located_in | ciliary tip | Component | - |
| 13 | Homo sapiens | IEA | located_in | non-motile cilium | Component | - |
| 14 | Homo sapiens | IEA | located_in | photoreceptor distal connecting cilium | Component | - |
| 15 | Homo sapiens | IBA | involved_in | non-motile cilium assembly | Process | - |