Details for Gene COBL

GENE NAME COBL
CHROMOSOME 7
ENSEMBL ID ENSG00000106078
ENTREZ ID 23242
UNIPROT ACCESSION NUMBER O75128
GO MOLECULAR FUNCTION actin monomer binding; actin binding; protein binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS
5 combinations linked to COBL OLI710; OLI758; OLI750; OLI756; OLI726
5 variants linked to COBL COBL:c.998G>A, p.Arg333Gln; COBL:c.3124C>T, p.Arg1042Cys; COBL:c.1538C>T, p.Ser513Phe; COBL:c.1199C>T, p.Ser400Leu; COBL:c.3010C>G, p.Gln1004Glu
1 disease linked to COBL Isolated anencephaly

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