Details for Gene NLRP3

GENE NAME NLRP3
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID ENSG00000162711
UNIPROT ACCESSION NUMBER Q96P20
GO MOLECULAR FUNCTION ['DNA-binding transcription factor binding', 'peptidoglycan binding', 'sequence-specific DNA binding', 'protein binding', 'identical protein binding', 'ATP binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04217; hsa04621; hsa04625; hsa05130; hsa05131; hsa05132; hsa05133; hsa05135; hsa05164; hsa05171; R-HSA-1643685; R-HSA-168249; R-HSA-168256; R-HSA-168643; R-HSA-392499; R-HSA-5663205; R-HSA-5688426; R-HSA-5689901; R-HSA-597592; R-HSA-622312; R-HSA-844456; R-HSA-9658195; R-HSA-9660826; R-HSA-9664424
15 combinations linked to NLRP3 OLI1770; OLI411; OLI1768; OLI1769; OLI1771; OLI1789; OLI1777; OLI1788; OLI1787; OLI1779; OLI1778; OLI412; OLI1772; OLI1786; OLI1780
5 variants linked to NLRP3 NLRP3:c.592G>A, p.Val198Met; NLRP3:c.526C>T, p.Arg176Trp; NLRP3:c.592G>A, p.Val200Met; NLRP3:c.2107C>A, p.Gln703Lys; NLRP3:c.1921G>A, p.Val641Met
2 diseases linked to NLRP3 Autoinflammatory syndrome; Familial Mediterranean fever
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