Reactome | PMS2 R628* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:5632971] Gillespie, Marc E, 2014-10-29
crossReference	[DatabaseIdentifier:12020752] Mondo:0005575
dbId	5632980
disease	[Disease:4791250] colorectal cancer
displayName	PMS2 R628* [nucleoplasm]
endCoordinate	627
hasModifiedResidue	[NonsenseMutation:5632962] Nonsense mutation at L-arginine 628
inDisease	true
literatureReference	[LiteratureReference:5632983] Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)
maxDepth	1
memberOf	[DefinedSet:R-HSA-5632957] PMS2 Variants [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9967511] D'Eustachio, Peter, 2025-09-29
name	PMS2 R628* PMS2 ARG628TER Mismatch repair endonuclease PMS2 ecNumber3.1.-.-/ecNumber PMS2_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:P54278] UniProt:P54278 PMS2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5632980
startCoordinate	1
updateTrackers	[UpdateTracker:9972190] Update Tracker - [EntityWithAccessionedSequence:5632980] PMS2 R628* [nucleoplasm] - v95:[modifyEndCoordinate] [UpdateTracker:9900657] Update Tracker - [EntityWithAccessionedSequence:5632980] PMS2 R628* [nucleoplasm] - v70:[addName]

(updatedInstance)	[UpdateTracker:9972190] Update Tracker - [EntityWithAccessionedSequence:5632980] PMS2 R628* [nucleoplasm] - v95:[modifyEndCoordinate] [UpdateTracker:9900657] Update Tracker - [EntityWithAccessionedSequence:5632980] PMS2 R628* [nucleoplasm] - v70:[addName]
(hasMember)	[DefinedSet:R-HSA-5632957] PMS2 Variants [nucleoplasm]

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