Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

KMT2D T2949Nfs*24 [nucleoplasm] Show undefined attributes

candidateOf

[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] - Homo sapiens

compartment

[Compartment:7660] nucleoplasm

created [InstanceEdit:9952587] Orlic-Milacic, Marija, 2025年05月28日

crossReference

dbId 9951885

disease

[Disease:9944973] Kabuki syndrome

displayName KMT2D T2949Nfs*24 [nucleoplasm]

endCoordinate 2971

hasModifiedResidue

[FragmentReplacedModification:9951952] Replacement of residues 2949 to 2971 by NTPHQGSYPANWFGAGQPAPVEH

inDisease true

maxDepth 1

name

KMT2D T2949Nfs*24

referenceEntity [ReferenceGeneProduct:uniprot:O14686] UniProt:O14686 KMT2D

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9951885

startCoordinate 1

Referrals

(hasCandidate)

[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm]

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