Reactome | non-cleavable RIPK1 variants [cytosol]

Schema > DefinedSet > Entries

compartment	[Compartment:70101] cytosol
componentOf	[Complex:R-HSA-9693918] TRADD:TRAF2:RIPK1 variant:FADD [cytosol] - Homo sapiens
created	[InstanceEdit:9693932] Shamovsky, Veronica, 2020-07-08
crossReference	[DatabaseIdentifier:12020959] Mondo:0003847
dbId	9693933
disease	[Disease:9663832] genetic disease
displayName	non-cleavable RIPK1 variants [cytosol]
hasMember	[EntityWithAccessionedSequence:R-HSA-9693930] RIPK1 D324N [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9693922] RIPK1 D324H [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9693927] RIPK1 D324V [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9693931] RIPK1 D324Y [cytosol] - Homo sapiens
inDisease	true
literatureReference	[LiteratureReference:9687021] A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1 [LiteratureReference:9687055] Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
maxDepth	2
name	non-cleavable RIPK1 variants
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9693933

(hasComponent)

Cite Us!