LOVD EIF2B1 homepage

General information
Gene name eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
Gene symbol EIF2B1
Chromosome Location 12q24.3
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the EIF2B1 database
Date of creation April 29, 2010
Last update January 05, 2013
Version EIF2B1 130105
Add sequence variant Submit a sequence variant
First time submitters Register here
Total number of unique DNA variants reported 2
Total number of individuals with variant(s) 2
Total number of variants reported 2
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the EIF2B1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the EIF2B1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the EIF2B1 database
Variants with no known pathogenicity Listing of all EIF2B1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 3257
Entrez Gene 1967
OMIM - Gene 606686
UniProtKB (SwissProt/TrEMBL) Q14232
External link Orphanet