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Details on Person KMT2D LOF Variants Do Not Bind WRAD Complex Components

Class:IdFailedReaction:9945017
_displayNameKMT2D LOF Variants Do Not Bind WRAD Complex Components
_doReleaseTRUE
_timestamp2025-05-28 22:01:41
authored[InstanceEdit:9944982] Kolar, Tessa, 2025-04-07
compartment[Compartment:7660] nucleoplasm
created[InstanceEdit:9945018] Orlic-Milacic, Marija, 2025-04-08
disease[Disease:9944973] Kabuki syndrome
edited[InstanceEdit:9953194] Orlic-Milacic, Marija, 2025-05-28
entityFunctionalStatus[EntityFunctionalStatus:9945022] loss_of_function of KMT2D LOF variants (WRAD binding) [nucleoplasm]
input[Complex:9675213] WRAD complex [nucleoplasm] [Homo sapiens]
[CandidateSet:9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] [Homo sapiens]
internalReviewed[InstanceEdit:9949555] Rothfels, Karen, 2025-05-22
isChimericFALSE
literatureReference[LiteratureReference:9945005] Dissecting KMT2D missense mutations in Kabuki syndrome patients
[LiteratureReference:9949915] Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients
modified[InstanceEdit:9945027] Orlic-Milacic, Marija, 2025-04-08
[InstanceEdit:9949613] Orlic-Milacic, Marija, 2025-05-23
[InstanceEdit:9949938] Orlic-Milacic, Marija, 2025-05-26
[InstanceEdit:9953193] Orlic-Milacic, Marija, 2025-05-28
[InstanceEdit:9953203] Orlic-Milacic, Marija, 2025-05-28
nameKMT2D LOF Variants Do Not Bind WRAD Complex Components
normalReaction
previousReviewStatus[ReviewStatus:9821383] three stars
releaseDate2025-06-18
reviewed[InstanceEdit:9953189] Kolar, Tessa, 2025-05-28
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9945019] R-HSA-9945017.1
structureModified[InstanceEdit:9945027] Orlic-Milacic, Marija, 2025-04-08
summation[Summation:9945023]

SUMMARY FOR MISSENSE VARIANTS

Missens...

(hasEvent)[Pathway:9944997] Loss of Function of KMT2D in MLL4 Complex Formation in Kabuki Syndrome [Homo sapiens]
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No pathways have been reviewed or authored by KMT2D LOF Variants Do Not Bind WRAD Complex Components (9945017)
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