Reactome | KMT2D S1037Pfs*30 [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:9952643] ClinVar:VCV000453057
dbId	9951967
disease	[Disease:9944973] Kabuki syndrome
displayName	KMT2D S1037Pfs*30 [nucleoplasm]
endCoordinate	1065
hasModifiedResidue	[FragmentReplacedModification:9952449] Replacement of residues 1037 to 1065 by PSFPVLSSCPTTVRSLPVESHREGSGGLR
inDisease	true
maxDepth	1
name	KMT2D S1037Pfs*30
referenceEntity	[ReferenceGeneProduct:uniprot:O14686] UniProt:O14686 KMT2D
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9951967
startCoordinate	1

(hasCandidate)

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