COL6A6 collagen type VI alpha 6 chain
Gene ID: 131873, updated on 17-Sep-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for COL6A6
- Go to Variation Viewer for COL6A6 variants
Summary
This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017]
Genomic context
- Location:
- 3q22.1
- Sequence:
- Chromosome: 3; NC_000003.12 (130516720..130677042)
- Total number of exons:
- 45
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for COL6A6 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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