Details for Gene AVPR2

GENE NAME AVPR2
CHROMOSOME X
ENSEMBL ID ENSG00000126895
ENTREZ ID 554
UNIPROT ACCESSION NUMBER P30518
GO MOLECULAR FUNCTION
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-382551; hsa04072; R-HSA-5619115; R-HSA-5653656; R-HSA-8856828; R-HSA-388396; R-HSA-1643685; R-HSA-388479; R-HSA-162582; R-HSA-372790; R-HSA-445717; R-HSA-500792; R-HSA-8856825; R-HSA-9036092; R-HSA-9664433; R-HSA-418555; R-HSA-5619102; hsa04080; R-HSA-373076; R-HSA-9660821; R-HSA-199991; hsa04962; R-HSA-432040; R-HSA-5663205; R-HSA-9658195; R-HSA-375276; R-HSA-9662851
1 combination linked to AVPR2 OLI328
1 variant linked to AVPR2 AVPR2:c.236G>C, p.Gly79Ala
1 disease linked to AVPR2 Amyotrophic lateral sclerosis

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