Tectonic family member 1 (TCTN1) Associated conditions: 1. Joubert syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001082537.3 | NP_001076006.1 | NC_000012.12 | (110614128..110649429) | Reference GRCh38.p14 Primary Assembly | Q2MV58 |
| 2 | REVIEWED | NM_001082538.3 | NP_001076007.1 | NC_000012.12 | (110614128..110649429) | Reference GRCh38.p14 Primary Assembly | Q2MV58 |
| 3 | REVIEWED | NM_001173975.3 | NP_001167446.1 | NC_000012.12 | (110614128..110649429) | Reference GRCh38.p14 Primary Assembly | Q2MV58 |
| 4 | REVIEWED | NM_001173976.2 | NP_001167447.1 | NC_000012.12 | (110614128..110649429) | Reference GRCh38.p14 Primary Assembly | Q2MV58 |
| 5 | REVIEWED | NM_001319680.2 | NP_001306609.1 | NC_000012.12 | (110614128..110649429) | Reference GRCh38.p14 Primary Assembly | Q2MV58 |
| 6 | REVIEWED | NM_001319681.2 | NP_001306610.1 | NC_000012.12 | (110614128..110649429) | Reference GRCh38.p14 Primary Assembly | Q2MV58 |
| 7 | REVIEWED | NM_001319682.3 | NP_001306611.1 | NC_000012.12 | (110614128..110649429) | Reference GRCh38.p14 Primary Assembly | Q2MV58 |
| 8 | REVIEWED | NM_024549.6 | NP_078825.2 | NC_000012.12 | (110614128..110649429) | Reference GRCh38.p14 Primary Assembly | Q2MV58 |
| 9 | REVIEWED | NR_135088.2 | - | NC_000012.12 | (110614128..110649429) | Reference GRCh38.p14 Primary Assembly | Q2MV58 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Tectonic family member 1 (TCTN1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Tectonic family member 1 (TCTN1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | involved_in | in utero embryonic development | Process | - |
| 2 | Homo sapiens | IEA | involved_in | neural tube formation | Process | - |
| 3 | Homo sapiens | IEA | located_in | extracellular space | Component | - |
| 4 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 5 | Homo sapiens | IEA | located_in | cytoskeleton | Component | - |
| 6 | Homo sapiens | IEA | involved_in | regulation of smoothened signaling pathway | Process | - |
| 7 | Homo sapiens | IEA | located_in | membrane | Component | - |
| 8 | Homo sapiens | IEA | involved_in | somatic motor neuron differentiation | Process | - |
| 9 | Homo sapiens | IEA | involved_in | telencephalon development | Process | - |
| 10 | Homo sapiens | IEA | involved_in | dorsal/ventral neural tube patterning | Process | - |
| 11 | Homo sapiens | IEA | involved_in | central nervous system interneuron axonogenesis | Process | - |
| 12 | Homo sapiens | IBA | part_of | MKS complex | Component | 21873635 |
| 13 | Homo sapiens | ISS | part_of | MKS complex | Component | - |
| 14 | Homo sapiens | IBA | involved_in | cilium assembly | Process | 21873635 |
| 15 | Homo sapiens | ISS | involved_in | cilium assembly | Process | - |
| 16 | Homo sapiens | IBA | involved_in | protein localization to ciliary transition zone | Process | 21873635 |