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; OLI726; OLI758; OLI750; OLI756 |
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 |