Details for Gene MEFV

GENE NAME MEFV
CHROMOSOME 16
ENSEMBL ID None
ENTREZ ID ENSG00000103313
UNIPROT ACCESSION NUMBER O15553
GO MOLECULAR FUNCTION ['zinc ion binding', 'protein binding', 'ubiquitin protein ligase activity', 'actin binding', 'identical protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04621; hsa05135; R-HSA-1643685; R-HSA-168249; R-HSA-168256; R-HSA-168643; R-HSA-5663205; R-HSA-622312; R-HSA-844456; R-HSA-9658195; R-HSA-9660826; R-HSA-9664424
26 combinations linked to MEFV OLI1753; OLI1758; OLI412; OLI413; OLI026; OLI1783; OLI1754; OLI1782; OLI1750; OLI1141; OLI1776; OLI411; OLI1777; OLI1751; OLI1756; OLI1755; OLI1138; OLI1784; OLI1752; OLI1789; OLI1786; OLI1787; OLI1757; OLI1781; OLI1788; OLI1759
17 variants linked to MEFV MEFV:c.442G>A, p.Glu148Gln; MEFV:c.622A>T, p.Ser208Cys; MEFV:p.Val726Ala; MEFV:p.Met694Val; MEFV:c.1777G>A, p.Ala593Thr; MEFV:c.202C>T, p.Gln68Ter; MEFV:c.442G>A, p.Glu148Gln; MEFV:c.1773T>G, p.Ile591Met; MEFV:c.2084A>G, p.Lys695Arg; MEFV:c.1105C>T, p.Pro369Ser; MEFV:c.1223G>A, p.Arg408Gln; MEFV:c.2080A>G, p.Met694Val; MEFV:c.1502G>A, p.Arg501His; MEFV:c.2230G>T, p.Ala744Ser; MEFV:c.986G>A, p.Arg329His; MEFV:c.2177T>C, p.Val726Ala; MEFV:c.1772T>C, p.Ile591Thr
3 diseases linked to MEFV Autoinflammatory syndrome; Mayer-Rokitansky-Küster-Hauser syndrome; Familial Mediterranean fever
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