GPANK1 G-patch domain and ankyrin repeats 1
Gene ID: 7918, updated on 10-Oct-2024Gene type: protein coding
Also known as: G5; BAT4; D6S54E; ANKRD59; GPATCH10
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- Go to complete Gene record for GPANK1
- Go to Variation Viewer for GPANK1 variants
Summary
This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]
Associated conditions
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Description | Tests |
---|---|
Common variants associated with general and MMR vaccine-related febrile seizures. GeneReviews: Not available | |
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.33
- Sequence:
- Chromosome: 6; NC_000006.12 (31661228..31666283, complement)
- Total number of exons:
- 5
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for GPANK1 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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