Leucine rich repeat and coiled-coil centrosomal protein 1 (LRRCC1) 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_001349636.2 | NP_001336565.1 | NC_000008.11 | (85107237..85146079) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001349637.2 | NP_001336566.1 | NC_000008.11 | (85107237..85146079) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001349638.2 | NP_001336567.1 | NC_000008.11 | (85107237..85146079) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001349639.2 | NP_001336568.1 | NC_000008.11 | (85107237..85146079) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_033402.5 | NP_208325.3 | NC_000008.11 | (85107237..85146079) | 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 Leucine rich repeat and coiled-coil centrosomal protein 1 (LRRCC1) 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 | is_active_in | centrosome | Component | - |
| 2 | Homo sapiens | IDA | located_in | centrosome | Component | 21399614 |
| 3 | Homo sapiens | IEA | located_in | centriole | Component | - |
| 4 | Homo sapiens | IEA | involved_in | cell division | Process | - |