LOVD RAB3GAP1 homepage

General information
Gene name RAB3 GTPase activating protein subunit 1 (catalytic)
Gene symbol RAB3GAP1
Chromosome Location 2q21.3
Database location MRC Human Genetics Unit
Curator Graeme Grimes, Irene Aligianis and Mark Handley
PubMed references View all (unique) PubMed references in the RAB3GAP1 database
Date of creation June 29, 2011
Last update May 10, 2013
Version RAB3GAP1 130510
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GenBank reference AC103590.2
Total number of unique DNA variants reported 51
Total number of individuals with variant(s) 63
Total number of variants reported 125
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the RAB3GAP1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the RAB3GAP1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the RAB3GAP1 database
Variants with no known pathogenicity Listing of all RAB3GAP1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 17063
Entrez Gene 22930
OMIM - Gene 602536
UniProtKB (SwissProt/TrEMBL) Q15042
GeneCards RAB3GAP1

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