Reactome | KMT2D L3657Qfs*89 [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9952587] Orlic-Milacic, Marija, 2025-05-28
crossReference	[DatabaseIdentifier:12020966] Mondo:0016512 [DatabaseIdentifier:9952501] ClinVar:VCV003370301
dbId	9952645
disease	[Disease:9944973] Kabuki syndrome
displayName	KMT2D L3657Qfs*89 [nucleoplasm]
endCoordinate	3744
hasModifiedResidue	[FragmentReplacedModification:9951800] Replacement of residues 3657 to 3744 by QVWHYLDSLVAPSLIQLWPNSSNSNILVGLDPWLALQGASSLATLLFEASDLIQGFYRKGSCSCSSNVCSWPRNCSSSSSSNSSSSTF
inDisease	true
maxDepth	1
name	KMT2D L3657Qfs*89
referenceEntity	[ReferenceGeneProduct:uniprot:O14686] UniProt:O14686 KMT2D
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9952645
startCoordinate	1

(hasCandidate)

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