The EIF2B2 gene homepage

General information
Gene symbol EIF2B2
Gene name eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
Chromosome 14
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_013333.1
Transcript reference NM_014239.3
Exon/intron information NM_014239.3 exon/intron table
Associated with diseases VWM
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 21
Unique public DNA variants reported 17
Individuals with public variants 12
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated May 24, 2021
Version EIF2B2:210524

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_014239.3.
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
Homepage URL https://www.LOVD.nl/EIF2B2
HGNC 3258
Entrez Gene 8892
PubMed articles EIF2B2
OMIM - Gene 606454
OMIM - Diseases VWM (leukoencephalopathy with vanishing white matter (VWM))
HGMD EIF2B2
GeneCards EIF2B2
GeneTests EIF2B2
Orphanet EIF2B2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006969 14 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa NM_014239.3 NP_055054.1 21


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