RPH3A rabphilin 3A
Gene ID: 22895, updated on 10-Oct-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for RPH3A
- Go to Variation Viewer for RPH3A variants
Summary
The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2018-07-25) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2018-07-25) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 12q24.13
- Sequence:
- Chromosome: 12; NC_000012.12 (112575236..112898881)
- Total number of exons:
- 27
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RPH3A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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