The RAG1 gene homepage

General information
Gene symbol RAG1
Gene name recombination activating gene 1
Chromosome 11
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_007528.1
Transcript reference NM_000448.2
Associated with diseases CCHIDG, Omenn, Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 72
Unique public DNA variants reported 58
Individuals with public variants 151
Hidden variants 4
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated March 05, 2021
Version RAG1:210305

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
HGNC 9831
Entrez Gene 5896
PubMed articles RAG1
OMIM - Gene 179615
OMIM - Diseases CCHIDG (immune defects, combined cellular and humoral with granulomas (CCHIDG))
Omenn (syndrome, Omenn)
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
HGMD RAG1
GeneCards RAG1
GeneTests RAG1
Orphanet RAG1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000138 11 recombination activating gene 1 NM_000448.2 NP_000439.1 72


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