THOC1 THO complex subunit 1
Gene ID: 9984, updated on 2-Nov-2024Gene type: protein coding
Also known as: P84; HPR1; P84N5; DFNA86
- See all available tests in GTR for this gene
- Go to complete Gene record for THOC1
- Go to Variation Viewer for THOC1 variants
Summary
Predicted to enable DNA binding activity and RNA binding activity. Involved in mRNA export from nucleus. Located in chromosome, telomeric region; cytoplasm; and nuclear speck. Part of THO complex part of transcription export complex. Implicated in autosomal dominant nonsyndromic deafness. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hearing loss, autosomal dominant 86 | not available |
| Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. GeneReviews: Not available |
Genomic context
- Location:
- 18p11.32
- Sequence:
- Chromosome: 18; NC_000018.10 (214520..268047, complement)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for THOC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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