LOVD EIF2B2 homepage

General information
Gene name eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
Gene symbol EIF2B2
Chromosome Location 14q24.3
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
Database reference for citations PMID8887689
PubMed references View all (unique) PubMed references in the EIF2B2 database
Date of creation April 29, 2010
Last update January 05, 2013
Version EIF2B2 130105
Add sequence variant Submit a sequence variant
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Total number of unique DNA variants reported 9
Total number of individuals with variant(s) 10
Total number of variants reported 10
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the EIF2B2 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 EIF2B2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the EIF2B2 database
Variants with no known pathogenicity Listing of all EIF2B2 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 3258
Entrez Gene 8892
OMIM - Gene 606454
UniProtKB (SwissProt/TrEMBL) P49770
External link Orphanet