Query author contributions in Reactome
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Details on Person KMT2D H5059R [nucleoplasm]
| Class:Id | EntityWithAccessionedSequence:9945066 |
|---|---|
| _displayName | KMT2D H5059R [nucleoplasm] |
| _timestamp | 2025-04-25 13:42:24 |
| compartment | [Compartment:7660] nucleoplasm |
| created | [InstanceEdit:9945065] Orlic-Milacic, Marija, 2025-04-10 |
| crossReference | [DatabaseIdentifier:9945061] ClinVar:VCV000981667 |
| disease | [Disease:9944973] Kabuki syndrome |
| endCoordinate | 5537 |
| hasModifiedResidue | [ReplacedResidue:9945067] L-histidine 5059 replaced with L-arginine |
| literatureReference | [LiteratureReference:9945005] Dissecting KMT2D missense mutations in Kabuki syndrome patients |
| modified | [InstanceEdit:9946530] Orlic-Milacic, Marija, 2025-04-25 |
| name | KMT2D H5059R MLL4 H5059R KMT2D His5059Arg |
| referenceEntity | [ReferenceGeneProduct:95334] UniProt:O14686 KMT2D [Homo sapiens] |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:9945071] R-HSA-9945066.1 |
| startCoordinate | 1 |
| (hasCandidate) | [CandidateSet:9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by KMT2D H5059R [nucleoplasm] (9945066)
