Reactome: A Curated Pathway Database
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Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

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Details on Person KMT2D P2724Qfs*5 [nucleoplasm]

Class:IdEntityWithAccessionedSequence:9952017
_displayNameKMT2D P2724Qfs*5 [nucleoplasm]
_timestamp2025-05-28 04:35:38
compartment[Compartment:7660] nucleoplasm
created[InstanceEdit:9952587] Orlic-Milacic, Marija, 2025-05-28
crossReference[DatabaseIdentifier:9952447] ClinVar:VCV000158788
disease[Disease:9944973] Kabuki syndrome
endCoordinate2727
hasModifiedResidue[FragmentReplacedModification:9952007] Replacement of residues 2724 to 2727 by QPCL
nameKMT2D P2724Qfs*5
referenceEntity[ReferenceGeneProduct:95334] UniProt:O14686 KMT2D [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9952712] R-HSA-9952017.1
startCoordinate1
(hasCandidate)[CandidateSet:9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] [Homo sapiens]
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No pathways have been reviewed or authored by KMT2D P2724Qfs*5 [nucleoplasm] (9952017)