Reactome | KMT2D P1181Hfs*31 [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:9952389] ClinVar:VCV000981677
dbId	9952411
disease	[Disease:9944973] Kabuki syndrome
displayName	KMT2D P1181Hfs*31 [nucleoplasm]
endCoordinate	1210
hasModifiedResidue	[FragmentReplacedModification:9952058] Replacement of residues 1181 to 1210 by HVKNRKSHVHRWPPHHPLSSNPTSLTRSLI
inDisease	true
maxDepth	1
name	KMT2D P1181Hfs*31
referenceEntity	[ReferenceGeneProduct:uniprot:O14686] UniProt:O14686 KMT2D
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9952411
startCoordinate	1

(hasCandidate)

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