Photoreceptor cilium actin regulator (PCARE) Associated conditions: 1. Retinitis pigmentosa
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001029883.3 | NP_001025054.1 | NC_000002.12 | (29061694..29074522, 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 Photoreceptor cilium actin regulator (PCARE) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Photoreceptor cilium actin regulator (PCARE)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IBA | is_active_in | photoreceptor outer segment | Component | - |
| 2 | Homo sapiens | IEA | located_in | photoreceptor outer segment | Component | - |
| 3 | Homo sapiens | IBA | is_active_in | photoreceptor inner segment | Component | - |
| 4 | Homo sapiens | IEA | located_in | photoreceptor inner segment | Component | - |
| 5 | Homo sapiens | IDA | located_in | cilium | Component | 20398886 |
| 6 | Homo sapiens | IEA | involved_in | visual perception | Process | - |
| 7 | Homo sapiens | IBA | involved_in | photoreceptor cell outer segment organization | Process | - |
| 8 | Homo sapiens | IBA | involved_in | protein localization to photoreceptor outer segment | Process | - |