The RAB28 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol RAB28
Gene name RAB28, member RAS oncogene family
Chromosome 4
Chromosomal band p16.1
Imprinted Unknown
Genomic reference NG_033891.1
Transcript reference NM_001017979.2
Exon/intron information NM_001017979.2 exon/intron table
Associated with diseases CORD, CORD18
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 22
Individuals with public variants 21
Hidden variants -
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
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 26, 2024
Version RAB28:240126

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_001017979.2.
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/RAB28
HGNC 9768
Entrez Gene 9364
PubMed articles RAB28
OMIM - Gene 612994
OMIM - Diseases CORD18 (dystrophy, cone-rod, type 18 (CORD18))
HGMD RAB28
GeneCards RAB28
GeneTests RAB28
Orphanet RAB28


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017316 4 transcript variant 1 NM_001017979.2 NP_001017979.1 30


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.