The ORAI1 gene homepage

General information
Gene symbol ORAI1
Gene name ORAI calcium release-activated calcium modulator 1
Chromosome 12
Chromosomal band q24.31
Imprinted Unknown
Genomic reference LRG_93
Transcript reference NM_032790.3
Associated with diseases TAM-2, Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 82
Unique public DNA variants reported 7
Individuals with public variants 35
Hidden variants 1
Date created November 30, -0001
Date last updated September 28, 2016
Version ORAI1:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:25896
Entrez Gene 84876
PubMed articles ORAI1
OMIM - Gene 610277
OMIM - Diseases TAM-2 (myopathy, tubular aggregates, type 2 (TAM-2))
Immune dysfunction with T-cell inactivation due to calcium entry defect 1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022292 12 ORAI calcium release-activated calcium modulator 1 NM_032790.3 NP_116179.2 82