The EIF2B1 gene homepage

General information
Gene symbol EIF2B1
Gene name eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
Chromosome 12
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_015862.1
Transcript reference NM_001414.3
Exon/intron information NM_001414.3 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 9
Unique public DNA variants reported 9
Individuals with public variants 3
Hidden variants 0
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 July 03, 2020
Version EIF2B1:200703

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_001414.3.
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/EIF2B1
HGNC 3257
Entrez Gene 1967
PubMed articles EIF2B1
OMIM - Gene 606686
OMIM - Diseases VWM (leukoencephalopathy with vanishing white matter (VWM))
HGMD EIF2B1
GeneCards EIF2B1
GeneTests EIF2B1
Orphanet EIF2B1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006968 12 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa NM_001414.3 NP_001405.1 9


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