ARHGEF10 Rho guanine nucleotide exchange factor 10
Gene ID: 9639, updated on 10-Oct-2024Gene type: protein coding
Also known as: SNCV; GEF10
- See all available tests in GTR for this gene
- Go to complete Gene record for ARHGEF10
- Go to Variation Viewer for ARHGEF10 variants
Summary
This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of brain lesion distribution in multiple sclerosis. GeneReviews: Not available | |
| Autosomal dominant slowed nerve conduction velocity | See labs |
| Genome-wide association study of selenium concentrations. GeneReviews: Not available |
Genomic context
- Location:
- 8p23.3
- Sequence:
- Chromosome: 8; NC_000008.11 (1823300..1958641)
- Total number of exons:
- 34
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARHGEF10 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ARHGEF10 homepage - Leiden Muscular Dystrophy pages
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IPN Mutations, ARHGEF10
- 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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