Details for Gene ARHGEF28

GENE NAME ARHGEF28
CHROMOSOME 5
ENSEMBL ID None
ENTREZ ID ENSG00000214944
UNIPROT ACCESSION NUMBER Q8N1W1
GO MOLECULAR FUNCTION ['guanyl-nucleotide exchange factor activity', 'metal ion binding', 'RNA binding']
ESSENTIAL IN MOUSE None
PATHWAYS hsa05135; R-HSA-1266738; R-HSA-2682334; R-HSA-3928662; R-HSA-422475; R-HSA-9675108
5 combinations linked to ARHGEF28 OLI1619; OLI1629; OLI1634; OLI1620; OLI328
5 variants linked to ARHGEF28 ARHGEF28:c.743C>G, p.Thr248Arg; ARHGEF28:c.1915A>G, p.Thr639Ala; ARHGEF28:c.1969C>T, p.Pro657Ser; ARHGEF28:c.4645G>A, p.Glu1549Lys; ARHGEF28:c.1180G>T, p.Glu394Ter
1 disease linked to ARHGEF28 Amyotrophic lateral sclerosis

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