3-Prime Repair Exonuclease 1

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OMIM Number

606609

NCBI Gene ID

11277

Uniprot ID

Q9NSU2

Length

2,126 bases

No. of Exons

3

No. of isoforms

3

Protein Name

Three-prime repair exonuclease 1

Molecular Mass

33212 Da

Amino Acid Count

314

Genomic Location

chr3:48,465,520-48,467,645

Gene Map Locus
3p21.31

Description

This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_033629.6:c.341G>AArab; United Arab Emir...NC_000003.12:g.48466996G>ABenign, Likely Pathogenic, PathogenicPathogenicAicardi-Goutieres Syndrome 1, Autosomal Dominant; Vasculopathy, Retinal, with Cerebral LeukodystrophyNG_009820.2:g.6167G>A; NM_033629.6:c.341G>A; NP_338599.1:p.Arg114His725565544179
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