The GABRG2 gene homepage

General information
Gene symbol GABRG2
Gene name gamma-aminobutyric acid (GABA) A receptor, gamma 2
Chromosome 5
Chromosomal band q34
Imprinted Unknown
Genomic reference NG_009290.1
Transcript reference NM_198904.2
Exon/intron information NM_198904.2 exon/intron table
Associated with diseases EIEE74, FEB8, GEFSP3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 87
Unique public DNA variants reported 79
Individuals with public variants 31
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated February 26, 2024
Version GABRG2:240226

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_198904.2.
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/GABRG2
HGNC 4087
Entrez Gene 2566
PubMed articles GABRG2
OMIM - Gene 137164
OMIM - Diseases EIEE74 (encephalopathy, epileptic, early infantile, type 74 (EIEE74))
FEB8 (Febrile seizures, familial, 8)
GEFSP3 (epilepsy, generalized, with febrile seizures plus, type 3 (GEFSP-3, seizures, febrile, familial, type 8 (FEB-8)))
HGMD GABRG2
GeneCards GABRG2
GeneTests GABRG2
Orphanet GABRG2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025853 5 transcript variant 1 NM_198904.2 NP_944494.1 87


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