Reactome | MSH2 Variants [nucleoplasm]

Schema > DefinedSet > Entries

authored	[InstanceEdit:5423600] Gillespie, Marc E, 2014-05-09
compartment	[Compartment:7660] nucleoplasm
consumedByEvent	[FailedReaction:R-HSA-5577244] MSH2 variant:MSH6-defective DNA mismatch repair - Homo sapiens [FailedReaction:R-HSA-5577259] MSH2 variant:MSH3-defective DNA mismatch repair - Homo sapiens
created	[InstanceEdit:5577242] Gillespie, Marc E, 2014-05-30
crossReference	[DatabaseIdentifier:12020752] Mondo:0005575
dbId	5577247
disease	[Disease:4791250] colorectal cancer
displayName	MSH2 Variants [nucleoplasm]
hasMember	[EntityWithAccessionedSequence:R-HSA-5575594] MSH2 R406* [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5577243] MSH2 GLN601TER [nucleoplasm] - Homo sapiens
inDisease	true
maxDepth	2
modified	[InstanceEdit:8879177] Wu, G, 2016-07-15
name	MSH2 Variants
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-5577247

(input)	[FailedReaction:R-HSA-5577259] MSH2 variant:MSH3-defective DNA mismatch repair [FailedReaction:R-HSA-5577244] MSH2 variant:MSH6-defective DNA mismatch repair
(diseaseEntity)	[EntityFunctionalStatus:5577245] loss_of_function of MSH2 Variants [nucleoplasm]