Query author contributions in Reactome
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Details on Person KMT2D R4288Lfs*94 [nucleoplasm]
| Class:Id | EntityWithAccessionedSequence:9951921 |
|---|---|
| _displayName | KMT2D R4288Lfs*94 [nucleoplasm] |
| _timestamp | 2025-05-28 04:35:32 |
| compartment | [Compartment:7660] nucleoplasm |
| created | [InstanceEdit:9952587] Orlic-Milacic, Marija, 2025-05-28 |
| crossReference | [DatabaseIdentifier:9951973] ClinVar:VCV002094946 |
| disease | [Disease:9944973] Kabuki syndrome |
| endCoordinate | 4380 |
| hasModifiedResidue | [FragmentReplacedModification:9952479] Replacement of residues 4288 to 4380 by LPHQEPYLQDQSLALSIPHLHHPALKSQRDLHNYLPPAPSFPLRPSSLPPIQGPPNLRGQPWSRLLGGSHLLLPSLQIPCLARVWDLGIPQTT |
| name | KMT2D R4288Lfs*94 |
| referenceEntity | [ReferenceGeneProduct:95334] UniProt:O14686 KMT2D [Homo sapiens] |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:9952914] R-HSA-9951921.1 |
| startCoordinate | 1 |
| (hasCandidate) | [CandidateSet:9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by KMT2D R4288Lfs*94 [nucleoplasm] (9951921)
