Details for Gene FAT4

GENE NAME FAT4
CHROMOSOME 4
ENSEMBL ID ENSG00000196159
ENTREZ ID 79633
UNIPROT ACCESSION NUMBER Q6V0I7
GO MOLECULAR FUNCTION protein binding; calcium ion binding
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04392
10 combinations linked to FAT4 OLI695; OLI696; OLI762; OLI735; OLI757; OLI744; OLI711; OLI746; OLI712; OLI708
12 variants linked to FAT4 FAT4:c.8015A>T, p.Asp2672Val; FAT4:c.739C>A, p.Pro247Thr; FAT4:c.6607C>T, p.Arg2203Trp; FAT4:c.11893C>T, p.Pro3965Ser; FAT4:c.3402A>T, p.Glu1134Asp; FAT4:c.5792A>G, p.Tyr1931Cys; FAT4:c.10384A>G, p.Ile3462Val; FAT4:c.3937C>T, p.Pro1313Ser; FAT4:c.10147G>A, p.Gly3383Ser; FAT4:c.4250C>A, p.Pro1417His; FAT4:c.13921C>G, p.Gln4641Glu; FAT4:c.10847C>T, p.Thr3616Met
1 disease linked to FAT4 Isolated anencephaly

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