The ARHGEF9 gene homepage

General information
Gene symbol ARHGEF9
Gene name Cdc42 guanine nucleotide exchange factor (GEF) 9
Chromosome X
Chromosomal band q11.1
Imprinted Unknown
Genomic reference NG_016975.1
Transcript reference NM_001173479.1, NM_001173480.1, NM_015185.2
Associated with diseases EIEE-8, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 5
Unique public DNA variants reported 3
Individuals with public variants 5
Hidden variants -
Date created November 30, -0001
Date last updated September 20, 2016
Version ARHGEF9:160920

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:14561
Entrez Gene 23229
PubMed articles ARHGEF9
OMIM - Gene 300429
OMIM - Diseases EIEE-8 (encephalopathy, epileptic, early infantile, type 8 (EIEE-8))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023815 X Manually created transcript NM_001173480.1 - 4
00010091 X transcript variant 2 NM_001173479.1 NP_001166950.1 2
00024272 X Manually created transcript NM_015185.2 - 1