Plastin 3 (PLS3) Associated conditions: 1. Congenital diaphragmatic hernia
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001136025.5 | NP_001129497.1 | NC_000023.11 | (115561173..115650860) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001172335.3 | NP_001165806.1 | NC_000023.11 | (115561173..115650860) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001282337.2 | NP_001269266.1 | NC_000023.11 | (115561173..115650860) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001282338.2 | NP_001269267.1 | NC_000023.11 | (115561173..115650860) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001440791.1 | NP_001427720.1 | NC_000023.11 | (115561173..115650860) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001440792.1 | NP_001427721.1 | NC_000023.11 | (115561173..115650860) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_005032.7 | NP_005023.2 | NC_000023.11 | (115561173..115650860) | 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 Plastin 3 (PLS3) 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 | actin binding | Function | - |
| 2 | Homo sapiens | IEA | enables | calcium ion binding | Function | - |
| 3 | Homo sapiens | IBA | is_active_in | cytoplasm | Component | - |
| 4 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 5 | Homo sapiens | IDA | located_in | cytosol | Component | - |
| 6 | Homo sapiens | IBA | is_active_in | actin filament | Component | - |
| 7 | Homo sapiens | IEA | is_active_in | neuromuscular junction | Component | - |
| 8 | Homo sapiens | IBA | is_active_in | actin filament bundle | Component | - |
| 9 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 10 | Homo sapiens | IBA | enables | actin filament binding | Function | - |
| 11 | Homo sapiens | IEA | enables | actin filament binding | Function | - |
| 12 | Homo sapiens | IBA | involved_in | actin filament bundle assembly | Process | - |
| 13 | Homo sapiens | IEA | involved_in | actin filament bundle assembly | Process | - |
| 14 | Homo sapiens | IBA | involved_in | actin filament network formation | Process | - |
| 15 | Homo sapiens | IMP | involved_in | bone development | Process | 24088043 |
| 16 | Homo sapiens | IEA | involved_in | regulation of synaptic vesicle cycle | Process | - |
| 17 | Homo sapiens | IEA | enables | structural constituent of presynaptic actin cytoskeleton | Function | - |
| 18 | Homo sapiens | IEA | involved_in | presynaptic actin cytoskeleton organization | Process | - |