The EIF2S3 gene homepage

General information
Gene symbol EIF2S3
Gene name eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
Chromosome X
Chromosomal band p22.2-p22.1
Imprinted Unknown
Genomic reference NG_016387.1
Transcript reference NM_001415.3
Exon/intron information NM_001415.3 exon/intron table
Associated with diseases MEHMO
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 30
Unique public DNA variants reported 20
Individuals with public variants 136
Hidden variants 0
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated September 17, 2021
Version EIF2S3:210917

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_001415.3.
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 http://www.LOVD.nl/EIF2S3
HGNC 3267
Entrez Gene 1968
PubMed articles EIF2S3
OMIM - Gene 300161
OMIM - Diseases MEHMO (MRXS20)
HGMD EIF2S3
GeneCards EIF2S3
GeneTests EIF2S3
Orphanet EIF2S3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000764 X eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa NM_001415.3 NP_001406.1 30


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