Recombination-Activating Gene 1

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OMIM Number

179615

NCBI Gene ID

5896

Uniprot ID

P15918

Length

156 82,757 bases

No. of Exons

3

No. of isoforms

2

Protein Name

V(D)J recombination-activating protein 1

Molecular Mass

119097 Da

Amino Acid Count

1043

Genomic Location

chr11:36,510,400-36,593

Gene Map Locus
11p12

Description

The RAG1 gene provides instructions for making a member of a group of proteins called the RAG complex, which is involved in the V(D)J recombination process.  The RAG1 gene is therefore, centrally involved in the body's immune mechanism. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000448.2:c.2942A>CMoroccoNC_000011.10:g.36576246A>CPathogenicPathogenicAlpha/Beta T-Cell Lymphoma with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and AutoimmunityNG_007528.1:g.13234A>C; NM_000448.2:c.2942A>C; NP_000439.1:p.Gln981Pro10489428813155
NM_000448.2:c.519delT AlgeriaNC_000011.10:g.36573823delPathogenicPathogenicAlpha/Beta T-Cell Lymphoma with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and AutoimmunityNG_007528.1:g.10811del; NM_000448.2:c.519delT ; NP_000439.1:p.Glu174SerfsTer27124169897813153
NM_000448.2:c.940C>T LebanonNC_000011.10:g.36574244C>TPathogenicNG_007528.1:g.11232C>T; NM_000448.2:c.940C>T ; NP_000439.1:p.Arg314Trp12191856813156
NM_000448.3:c.2521C>TLebanonNC_000011.10:g.36575825C>TPathogenicPathogenicAlpha/Beta T-Cell Lymphoma with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and AutoimmunityNG_007528.1:g.12813C>T; NM_000448.3:c.2521C>T; NP_000439.1:p.Arg841Trp10489428713154
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