Filamin C (FLNC) Associated conditions: 1. Spastic ataxia 2. Restrictive cardiomyopathy 3. Dilated cardiomyopathy 1A 4. Tetralogy of Fallot
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001127487.2 | NP_001120959.1 | NC_000007.14 | (128830405..128859271) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001458.5 | NP_001449.3 | NC_000007.14 | (128830405..128859271) | 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 Filamin C (FLNC) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Filamin C (FLNC)
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 | IPI | enables | protein binding | Function | 10629222 10984498 11038172 16076904 16631741 17360532 17474147 21223964 22972877 33961781 |
| 3 | Homo sapiens | IDA | located_in | cytoplasm | Component | 12393796 25351925 |
| 4 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 5 | Homo sapiens | IDA | located_in | cytosol | Component | - |
| 6 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 7 | Homo sapiens | IEA | located_in | cytoskeleton | Component | - |
| 8 | Homo sapiens | HDA | located_in | focal adhesion | Component | 21423176 |
| 9 | Homo sapiens | IPI | enables | cytoskeletal protein binding | Function | 17987659 |
| 10 | Homo sapiens | IEA | located_in | membrane | Component | - |
| 11 | Homo sapiens | IEA | located_in | sarcoplasm | Component | - |
| 12 | Homo sapiens | IEA | located_in | Z disc | Component | - |
| 13 | Homo sapiens | IEA | involved_in | actin cytoskeleton organization | Process | - |
| 14 | Homo sapiens | IEA | enables | ankyrin binding | Function | - |
| 15 | Homo sapiens | IPI | enables | ankyrin binding | Function | 21223964 |
| 16 | Homo sapiens | IDA | located_in | sarcolemma | Component | 21223964 |
| 17 | Homo sapiens | IEA | located_in | sarcolemma | Component | - |
| 18 | Homo sapiens | IPI | enables | identical protein binding | Function | 15642266 |
| 19 | Homo sapiens | TAS | located_in | costamere | Component | 21223964 |
| 20 | Homo sapiens | IMP | involved_in | sarcomere organization | Process | 34405687 |
| 21 | Homo sapiens | IEA | enables | actin filament binding | Function | - |
| 22 | Homo sapiens | IEA | involved_in | muscle cell development | Process | - |