Reactome | MSH6 variant:MSH2-defective DNA mismatch repair

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MSH6 variant:MSH2-defective DNA mismatch repair Show undefined attributes

authored	[InstanceEdit:5577263] Gillespie, Marc E, 2014-05-30
category	transition
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:5632971] Gillespie, Marc E, 2014-10-29
crossReference	[DatabaseIdentifier:12020752] Mondo:0005575
dbId	5632970
disease	[Disease:4791250] colorectal cancer
displayName	MSH6 variant:MSH2-defective DNA mismatch repair
edited	[InstanceEdit:8980657] Gillespie, Marc E, 2017-02-28
entityFunctionalStatus	[EntityFunctionalStatus:5632965] loss_of_function of MSH6 LEU222TER [nucleoplasm]
eventOf	[Pathway:R-HSA-5632968] Defective Mismatch Repair Associated With MSH6 - Homo sapiens
input	[EntityWithAccessionedSequence:R-HSA-5357525] MSH2 [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-5632954] MSH6 L222* [nucleoplasm]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5632978] Mutations of GTBP in genetically unstable cells
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	MSH6 variant:MSH2-defective DNA mismatch repair
normalReaction	[Reaction:R-HSA-5444516] Formation of MSH2:MSH6 Complex
releaseDate	2017-03-27
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:8944056] Arora, Sanjeevani, 2016-11-01
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5632970
summation	[Summation:5659930] MSH6 encodes a G/T mismatch-binding protein. The MSH6 LEU222...
updateTrackers	[UpdateTracker:9778896] Update Tracker - [FailedReaction:5632970] MSH6 variant:MSH2-defective DNA mismatch repair - v67:[addInput]

Referrals

(updatedInstance)	[UpdateTracker:9778896] Update Tracker - [FailedReaction:5632970] MSH6 variant:MSH2-defective DNA mismatch repair - v67:[addInput]
(hasEvent)	[Pathway:R-HSA-5632968] Defective Mismatch Repair Associated With MSH6

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