GENE NAME | INVS |
CHROMOSOME | 9 |
ENSEMBL ID | ENSG00000119509 |
ENTREZ ID | 27130 |
UNIPROT ACCESSION NUMBER | Q9Y283 |
GO MOLECULAR FUNCTION | protein binding; calmodulin binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04310; hsa04310 |
5 combinations linked to INVS | OLI723; OLI214; OLI761; OLI736; OLI691 |
3 variants linked to INVS | INVS:c.1948G>C, p.Ala650Pro; INVS:c.725C>T, p.Ser242Leu; INVS:c.740A>G, p.Asn247Ser |
3 diseases linked to INVS | Isolated anencephaly; Craniorachischisis; Nephronophthisis |