Reactome | KMT2D R5471S [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9946512] Orlic-Milacic, Marija, 2025-04-25
crossReference	[DatabaseIdentifier:12020966] Mondo:0016512 [DatabaseIdentifier:9946504] ClinVar:VCV000158743
dbId	9946511
disease	[Disease:9944973] Kabuki syndrome
displayName	KMT2D R5471S [nucleoplasm]
endCoordinate	5537
hasModifiedResidue	[ReplacedResidue:9946513] L-arginine 5471 replaced with L-serine
inDisease	true
maxDepth	1
modified	[InstanceEdit:9946530] Orlic-Milacic, Marija, 2025-04-25
name	KMT2D R5471S MLL4 R5471S KMT2D Arg5471Ser
referenceEntity	[ReferenceGeneProduct:uniprot:O14686] UniProt:O14686 KMT2D
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9946511
startCoordinate	1

(hasCandidate)

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