Vascular Anomalies Mutation Database
LOVD RASA1 homepage

General information
Gene name RAS p21 protein activator (GTPase activating protein) 1
Gene symbol RASA1
Chromosome Location 5q13.3
Database location
Curator Julie Soblet
Database reference for citations [Revencu et al., 2008] [Eerola et al., 2004]
PubMed references View all (unique) PubMed references in the RASA1 database
Date of creation March 09, 2010
Last update July 29, 2013
Version RASA1 130729
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Genomic refseq ID NG_011650.1
Transcript refseq ID NM_002890.1
Total number of unique DNA variants reported 91
Total number of individuals with variant(s) 118
Total number of variants reported 118
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the RASA1 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 (compact view)
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 RASA1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the RASA1 database
Variants with no known pathogenicity Listing of all RASA1 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
Entrez Gene 5921
OMIM - Gene 139150
OMIM - Disease #1 Parkes Weber Syndrome
OMIM - Disease #2 Capillary Malformation-Arteriovenous Malformation
UniProtKB (SwissProt/TrEMBL) P20936
GeneCards RASA1
GeneTests RASA1

Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium)