Tetratricopeptide repeat domain 7A (TTC7A) Associated conditions: 1. Multiple gastrointestinal atresias 2. Severe combined immunodeficiency disease 3. Common variable immunodeficiency
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001288951.2 | NP_001275880.1 | NC_000002.12 | (46915865..47076122) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001288953.2 | NP_001275882.1 | NC_000002.12 | (46915865..47076122) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001288955.2 | NP_001275884.1 | NC_000002.12 | (46915865..47076122) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_020458.4 | NP_065191.2 | NC_000002.12 | (46915865..47076122) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | XR_007078570.1 | - | NC_000002.12 | (46915865..47076122) | 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 Tetratricopeptide repeat domain 7A (TTC7A) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Tetratricopeptide repeat domain 7A (TTC7A)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IPI | enables | protein binding | Function | 24417819 33122718 |
| 2 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 3 | Homo sapiens | IBA | is_active_in | plasma membrane | Component | - |
| 4 | Homo sapiens | IEA | located_in | plasma membrane | Component | - |
| 5 | Homo sapiens | IBA | involved_in | phosphatidylinositol phosphate biosynthetic process | Process | - |
| 6 | Homo sapiens | IBA | involved_in | protein localization to plasma membrane | Process | - |
| 7 | Homo sapiens | IDA | involved_in | protein localization to plasma membrane | Process | 23229899 |