The NHEJ1 gene homepage

General information
Gene symbol NHEJ1
Gene name nonhomologous end-joining factor 1
Chromosome 2
Chromosomal band q35
Imprinted Unknown
Genomic reference LRG_90
Transcript reference NM_024782.2
Associated with diseases immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 15
Unique public DNA variants reported 14
Individuals with public variants 19
Hidden variants 1
Date created May 03, 2013
Date last updated February 08, 2021
Version NHEJ1:210208

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 25737
Entrez Gene 79840
PubMed articles NHEJ1
OMIM - Gene 611290
OMIM - Diseases immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation
Orphanet NHEJ1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014545 2 nonhomologous end-joining factor 1 NM_024782.2 NP_079058.1 15


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