EFCAB9 EF-hand calcium binding domain 9
Gene ID: 285588, updated on 2-Nov-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for EFCAB9
- Go to Variation Viewer for EFCAB9 variants
Summary
This gene encodes a protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a canonical twelve-residue sequence that coordinates a calcium molecule with pentagonal bipyramidal symmetry. [provided by RefSeq, Jul 2017]
Genomic context
- Location:
- 5q35.1
- Sequence:
- Chromosome: 5; NC_000005.10 (172194172..172203454)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EFCAB9 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
- Variation ViewerRelated Variants
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