EFCAB14 EF-hand calcium binding domain 14
Gene ID: 9813, updated on 17-Sep-2024Gene type: protein coding
Also known as: KIAA0494
- See all available tests in GTR for this gene
- Go to complete Gene record for EFCAB14
- Go to Variation Viewer for EFCAB14 variants
Summary
Predicted to enable calcium ion binding activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. GeneReviews: Not available |
Genomic context
- Location:
- 1p33
- Sequence:
- Chromosome: 1; NC_000001.11 (46675159..46719114, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EFCAB14 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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