MEFV MEFV innate immunity regulator, pyrin
Gene ID: 4210, updated on 31-Mar-2024Gene type: protein coding
Also known as: FMF; MEF; PAAND; TRIM20
- See all available tests in GTR for this gene
- Go to complete Gene record for MEFV
- Go to Variation Viewer for MEFV variants
Summary
This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]
Associated conditions
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2018-08-16) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2018-08-16) ClinGen Genome Curation Page |
Genomic context
- Location:
- 16p13.3
- Sequence:
- Chromosome: 16; NC_000016.10 (3242027..3256633, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MEFV 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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