LOVD RAB27A homepage

General information
Gene name RAB27A, member RAS oncogene family
Gene symbol RAB27A
Chromosome Location 15q15-q21.1
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the RAB27A database
Date of creation April 27, 2010
Last update April 28, 2010
Version RAB27A100428
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000015.9
Transcript refseq ID NM_004580.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 17
Total number of individuals with variant(s) 2
Total number of variants reported 17
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the RAB27A database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
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 RAB27A database, without patient data
Complete sequence variant listing Listing of all sequence variants in the RAB27A database
Variants with no known pathogenicity Listing of all RAB27A 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 9766
Entrez Gene 5873
OMIM - Gene 603868
UniProtKB (SwissProt/TrEMBL) P51159
GeneCards RAB27A
GeneTests RAB27A