Lamin A/C (LMNA) Associated conditions: 1. Hutchinson-Gilford syndrome 2. Familial partial lipodystrophy 3. Charcot-Marie-Tooth disease 4. Emery-Dreifuss muscular dystrophy
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001406993.1 | NP_001393922.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 2 | REVIEWED | NM_170708.4 | NP_733822.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 3 | REVIEWED | NM_170707.4 | NP_733821.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 4 | REVIEWED | NM_005572.4 | NP_005563.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 5 | REVIEWED | NM_001407003.1 | NP_001393932.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 6 | REVIEWED | NM_001407002.1 | NP_001393931.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 7 | REVIEWED | NM_001407001.1 | NP_001393930.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 8 | REVIEWED | NM_001407000.1 | NP_001393929.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 9 | REVIEWED | NM_001406999.1 | NP_001393928.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 10 | REVIEWED | NM_001406998.1 | NP_001393927.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 11 | REVIEWED | NM_001406997.1 | NP_001393926.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 12 | REVIEWED | NM_001406996.1 | NP_001393925.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 13 | REVIEWED | NM_001406995.1 | NP_001393924.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 14 | REVIEWED | NM_001406994.1 | NP_001393923.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 15 | REVIEWED | NM_001257374.3 | NP_001244303.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 16 | REVIEWED | NM_001406992.1 | NP_001393921.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 17 | REVIEWED | NM_001406991.1 | NP_001393920.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 18 | REVIEWED | NM_001406990.1 | NP_001393919.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 19 | REVIEWED | NM_001406989.1 | NP_001393918.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 20 | REVIEWED | NM_001406988.1 | NP_001393917.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 21 | REVIEWED | NM_001406987.1 | NP_001393916.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 22 | REVIEWED | NM_001406986.1 | NP_001393915.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 23 | REVIEWED | NM_001406985.1 | NP_001393914.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 24 | REVIEWED | NM_001406984.1 | NP_001393913.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 25 | REVIEWED | NM_001406983.1 | NP_001393912.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 26 | REVIEWED | NM_001282626.2 | NP_001269555.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 27 | REVIEWED | NM_001282625.2 | NP_001269554.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
| 28 | REVIEWED | NM_001282624.2 | NP_001269553.1 | NC_000001.11 | (156082572..156140080) | Reference GRCh38.p14 Primary Assembly | P02545 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Lamin A/C (LMNA) 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 | IBA | enables | structural constituent of cytoskeleton | Function | 21873635 |
| 2 | Homo sapiens | IPI | enables | protein binding | Function | 10514485 10727209 11587540 11801724 14597414 15140953 15161933 15671068 16247757 19323649 19933576 20000738 20467437 20580717 20618440 21418524 21949239 21988832 22399800 22555292 23658700 23977161 24981860 25416956 29568061 29997244 30021884 30488537 31515488 31548606 32296183 32814053 |
| 3 | Homo sapiens | HDA | located_in | nucleus | Component | 16791210 |
| 4 | Homo sapiens | IDA | located_in | nucleus | Component | 18809582 20810912 |
| 5 | Homo sapiens | IBA | is_active_in | nuclear envelope | Component | 21873635 |
| 6 | Homo sapiens | IDA | located_in | nuclear envelope | Component | 18606848 27534416 |
| 7 | Homo sapiens | IMP | colocalizes_with | nuclear envelope | Component | 21610090 |
| 8 | Homo sapiens | TAS | located_in | nuclear envelope | Component | - |
| 9 | Homo sapiens | IEA | located_in | lamin filament | Component | - |
| 10 | Homo sapiens | IBA | is_active_in | nuclear lamina | Component | 21873635 |
| 11 | Homo sapiens | IDA | located_in | nucleoplasm | Component | 27534416 |
| 12 | Homo sapiens | TAS | located_in | nucleoplasm | Component | - |
| 13 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 14 | Homo sapiens | IEA | involved_in | protein import into nucleus | Process | - |
| 15 | Homo sapiens | IBA | involved_in | nuclear envelope organization | Process | 21873635 |
| 16 | Homo sapiens | IBA | involved_in | nuclear migration | Process | 21873635 |
| 17 | Homo sapiens | IMP | involved_in | negative regulation of cell population proliferation | Process | 27534416 |
| 18 | Homo sapiens | IEA | involved_in | positive regulation of gene expression | Process | - |
| 19 | Homo sapiens | IDA | located_in | nuclear matrix | Component | 31548606 |
| 20 | Homo sapiens | IDA | located_in | nuclear speck | Component | - |
| 21 | Homo sapiens | ISS | involved_in | regulation of cell migration | Process | - |
| 22 | Homo sapiens | ISS | involved_in | establishment or maintenance of microtubule cytoskeleton polarity | Process | - |
| 23 | Homo sapiens | IBA | involved_in | heterochromatin formation | Process | 21873635 |
| 24 | Homo sapiens | IEA | involved_in | regulation of protein stability | Process | - |
| 25 | Homo sapiens | HDA | located_in | nuclear membrane | Component | 16791210 |
| 26 | Homo sapiens | ISS | involved_in | protein localization to nucleus | Process | - |
| 27 | Homo sapiens | IDA | located_in | site of double-strand break | Component | 31548606 |
| 28 | Homo sapiens | IBA | involved_in | nuclear pore localization | Process | 21873635 |
| 29 | Homo sapiens | IEA | involved_in | ventricular cardiac muscle cell development | Process | - |
| 30 | Homo sapiens | IEP | involved_in | cellular response to hypoxia | Process | 20810912 |
| 31 | Homo sapiens | IEA | involved_in | negative regulation of mesenchymal cell proliferation | Process | - |
| 32 | Homo sapiens | IEA | involved_in | negative regulation of release of cytochrome c from mitochondria | Process | - |
| 33 | Homo sapiens | IDA | acts_upstream_of_or_within_positive_effect | cellular senescence | Process | 20458013 |
| 34 | Homo sapiens | IBA | involved_in | protein localization to nuclear envelope | Process | 21873635 |
| 35 | Homo sapiens | IEA | involved_in | regulation of protein localization to nucleus | Process | - |
| 36 | Homo sapiens | ISS | involved_in | negative regulation of cardiac muscle hypertrophy in response to stress | Process | - |
| 37 | Homo sapiens | IDA | involved_in | DNA double-strand break attachment to nuclear envelope | Process | 31548606 |
| 38 | Homo sapiens | IEA | involved_in | negative regulation of extrinsic apoptotic signaling pathway | Process | - |