GABRB2 gene homepage

General information
Gene symbol GABRB2
Gene name gamma-aminobutyric acid (GABA) A receptor, beta 2
Chromosome 5
Chromosomal band q34
Imprinted Unknown
Genomic reference NC_000005.9
Transcript reference NM_000813.2
Exon/intron information NM_000813.2 exon/intron table
Associated with diseases IECEE, IECEE-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 3
Unique public DNA variants reported 3
Individuals with public variants 2
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 May 03, 2013
Date last updated August 17, 2018
Version GABRB2:180817

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_000813.2.
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/GABRB2
HGNC 4082
Entrez Gene 2561
PubMed articles GABRB2
OMIM - Gene 600232
OMIM - Diseases IECEE-2 (encephalopathy, epileptic, infantile or early childhood, type 2 ( IECEE-2))
HGMD GABRB2
GeneCards GABRB2
GeneTests GABRB2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008273 5 transcript variant 2 NM_000813.2 NP_000804.1 3


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