Details for Gene INVS

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

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