Family with sequence similarity 149 member B1 (FAM149B1) Associated conditions: 1. Joubert syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Family with sequence similarity 149 member B1 (FAM149B1) 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 | IPI | enables | protein binding | Function | 30905400 |
| 2 | Homo sapiens | IEA | located_in | cilium | Component | - |
| 3 | Homo sapiens | IEA | involved_in | cell projection organization | Process | - |
| 4 | Homo sapiens | IBA | involved_in | cilium assembly | Process | - |
| 5 | Homo sapiens | IMP | involved_in | cilium assembly | Process | 30905400 |
| 6 | Homo sapiens | IBA | involved_in | protein localization to cilium | Process | - |
| 7 | Homo sapiens | IMP | involved_in | protein localization to cilium | Process | 30905400 |