Details for Gene ADGRV1

GENE NAME ADGRV1
CHROMOSOME 5
ENSEMBL ID None
ENTREZ ID ENSG00000164199
UNIPROT ACCESSION NUMBER Q8WXG9
GO MOLECULAR FUNCTION ['hydrolase activity', 'G-protein alpha-subunit binding', 'G protein-coupled receptor activity', 'calcium ion binding', 'protein binding', 'adenylate cyclase inhibitor activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-1266738; R-HSA-9619665; R-HSA-9675108
10 combinations linked to ADGRV1 OLI1649; OLI254; OLI102; OLI108; OLI101; OLI1319; OLI1035; OLI122; OLI1034; OLI552
12 variants linked to ADGRV1 ADGRV1:p.Gln5459His; ADGRV1:p.Asp4707Tyr; ADGRV1:c.1563dupT, p.Pro522fsTer8; ADGRV1:c.17668_17669delAT, p.Met5890fsTer10; ADGRV1:c.17137delG, p.Ala5713LeufsTer3; ADGRV1:c.3022+2T>G, ; ADGRV1:c.13165_13166insTGGAACTCCAGGAGGG, p.Ile4389MetfsTer11; ADGRV1:c.7582C>T, p.Pro2528Ser; ADGRV1:c.16640G>A, p.Arg5547His; ADGRV1:c.6317C>T, ; ADGRV1:c.10790A>T, ; ADGRV1:c.13418T>A, p.Ile4473Asn
7 diseases linked to ADGRV1 Usher syndrome type 1; Usher syndrome type 2; Non-syndromic genetic deafness; Meniere Disease; Rare genetic deafness; Atypical hemolytic uremic syndrome; Retinitis pigmentosa
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