Reactome | UNC93B1 variants [endoplasmic reticulum membrane]

Schema > DefinedSet > Entries

compartment	[Compartment:12045] endoplasmic reticulum membrane
consumedByEvent	[FailedReaction:R-HSA-5607838] Defective UNC93B1 does not bind TLR3 - Homo sapiens
created	[InstanceEdit:9628864] Shamovsky, Veronica, 2018-11-13
crossReference	[DatabaseIdentifier:12021025] Mondo:0003778
dbId	9628862
disease	[Disease:5228860] primary immunodeficiency disease
displayName	UNC93B1 variants [endoplasmic reticulum membrane]
hasMember	[EntityWithAccessionedSequence:R-HSA-9628869] UNC93B1 L230Afs188 [endoplasmic reticulum membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9628866] UNC93B1 P345Pfs103 [endoplasmic reticulum membrane] - Homo sapiens
inDisease	true
literatureReference	[LiteratureReference:1678917] Herpes simplex virus encephalitis in human UNC-93B deficiency
maxDepth	2
name	UNC93B1 variants
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9628862

(input)	[FailedReaction:R-HSA-5607838] Defective UNC93B1 does not bind TLR3
(diseaseEntity)	[EntityFunctionalStatus:5607832] loss_of_function of UNC93B1 variants [endoplasmic reticulum membrane]

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