AVIL advillin
Gene ID: 10677, updated on 5-Mar-2024Gene type: protein coding
Also known as: p92; DOC6; ADVIL; NPHS21
- See all available tests in GTR for this gene
- Go to complete Gene record for AVIL
- Go to Variation Viewer for AVIL variants
Summary
The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Nephrotic syndrome, type 21 | See labs |
Genomic context
- Location:
- 12q14.1
- Sequence:
- Chromosome: 12; NC_000012.12 (57797380..57818734, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AVIL 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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