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KMT2D E446Sfs*484 [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 9951732

disease

[Disease:9944973] Kabuki syndrome

displayName KMT2D E446Sfs*484 [nucleoplasm]

endCoordinate 928

hasModifiedResidue

[FragmentReplacedModification:9952461] Replacement of residues 446 to 928 by SHPCPHHLRNHPRPHHLRHHACHHHLRNCPHPHFLRHCTCPGRWRNRPSLRRLRSLLCLPHLNHHLFLHWRSRPCLHRKSHPHLLHLRRLYPHHLKHRPCPHHLKNLLCPRHLRNCPLPRHLKHLACLHHLRSHPCPLHLKSHPCLHHRRHLVCSHHLKSLLCPLHLRSLPFPHHLRHHACPHHLRTRLCPHHLKNHLCPPHLRYRAYPPCLWCHACLHRLRNLPCPHRLRSLPRPLHLRLHASPHHLRTPPHPHHLRTHLLPHHRRTRSCPCRWRSHPCCHYLRSRNSAPGPRGRTCHPGLRSRTCPPGLRSHTYLRRLRSHTCPPSLRSHAYALCLRSHTCPPRLRDHICPLSLRNCTCPPRLRSRTCLLCLRSHACPPNLRNHTCPPSLRSHACPPGLRNRICPLSLRSHPCPLGLKSPLRSQANALHLRSCPCSLPLGNHPYLPCLESQPCLSLGNHLCPLCPRSCRCPHLGSHPCRLS

inDisease true

maxDepth 1

name

KMT2D E446Sfs*484

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

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9951732

startCoordinate 1

Referrals

(hasCandidate)

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

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