The AGBL5 gene homepage

General information
Gene symbol AGBL5
Gene name ATP/GTP binding protein-like 5
Chromosome 2
Chromosomal band p23.3
Imprinted Unknown
Genomic reference NG_052914.1
Transcript reference NM_021831.5
Exon/intron information NM_021831.5 exon/intron table
Associated with diseases retinal disease, RP75
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 72
Unique public DNA variants reported 62
Individuals with public variants 72
Hidden variants -
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 January 11, 2023
Version AGBL5:230111

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_021831.5.
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/AGBL5
HGNC 26147
Entrez Gene 60509
PubMed articles AGBL5
OMIM - Gene 615900
OMIM - Diseases RP75 (retinitis pigmentosa, type 75 (RP75))
HGMD AGBL5
GeneCards AGBL5
GeneTests AGBL5
Orphanet AGBL5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002225 2 transcript variant 1 NM_021831.5 NP_068603.4 72


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