Reactome | KMT2D Y2060* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9950763] Orlic-Milacic, Marija, 2025-05-28
crossReference	[DatabaseIdentifier:12020966] Mondo:0016512 [DatabaseIdentifier:9951194] ClinVar:VCV001452008 [DatabaseIdentifier:9951204] ClinVar:VCV002687917
dbId	9950650
deleted	[Deleted:9961251] Deletion of instance: 9950983
disease	[Disease:9944973] Kabuki syndrome
displayName	KMT2D Y2060* [nucleoplasm]
endCoordinate	2059
hasModifiedResidue	[NonsenseMutation:9951107] Nonsense mutation at L-tyrosine 2060
inDisease	true
maxDepth	1
modified	[InstanceEdit:9961248] Orlic-Milacic, Marija, 2025-07-22
name	KMT2D Y2060*
referenceEntity	[ReferenceGeneProduct:uniprot:O14686] UniProt:O14686 KMT2D
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9950650
startCoordinate	1

(replacementInstances)	[Deleted:9961251] Deletion of instance: 9950983
(hasCandidate)	[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm]

Cite Us!