RAP1B RAP1B, member of RAS oncogene family
Gene ID: 5908, updated on 10-Dec-2024Gene type: protein coding
Also known as: K-REV; RAL1B; THC11
- See all available tests in GTR for this gene
- Go to complete Gene record for RAP1B
- Go to Variation Viewer for RAP1B variants
Summary
This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | not available |
Genomic context
- Location:
- 12q15
- Sequence:
- Chromosome: 12; NC_000012.12 (68610899..68671901)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RAP1B 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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