RAB3GAP1 gene homepage

General information
Gene symbol RAB3GAP1
Gene name RAB3 GTPase activating protein subunit 1 (catalytic)
Chromosome 2
Chromosomal band q21.3
Imprinted Not imprinted
Genomic reference NG_016972.1
Transcript reference NM_001172435.1
Exon/intron information NM_001172435.1 exon/intron table
Associated with diseases ID, WARBM-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 35
Unique public DNA variants reported 27
Individuals with public variants 3
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated March 18, 2016
Version RAB3GAP1:160318

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_001172435.1.
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/RAB3GAP1
HGNC 17063
Entrez Gene 22930
PubMed articles RAB3GAP1
OMIM - Gene 602536
OMIM - Diseases WARBM-1 (Warburg micro syndrome, type 1 (WARBM-1))
HGMD RAB3GAP1
GeneCards RAB3GAP1
GeneTests RAB3GAP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001773 2 transcript variant 1 NM_001172435.1 NP_001165906.1 35


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