Details for Gene CELSR3

GENE NAME CELSR3
CHROMOSOME 3
ENSEMBL ID None
ENTREZ ID ENSG00000008300
UNIPROT ACCESSION NUMBER Q9NYQ7
GO MOLECULAR FUNCTION ['G protein-coupled receptor activity', 'calcium ion binding', 'protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS
5 combinations linked to CELSR3 OLI714; OLI1478; OLI737; OLI729; OLI701
5 variants linked to CELSR3 CELSR3:c.9827C>T, p.Pro3276Leu; CELSR3:c.7890G>A, p.Met2630Ile; CELSR3:c.8335C>G, p.Arg2779Gly; CELSR3:c.5587C>T, p.Arg1863Trp; CELSR3:p.Arg3289His
2 diseases linked to CELSR3 Hypoplastic left heart syndrome; Isolated anencephaly

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