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Details on Person LRP5 D666_L809del [plasma membrane]

Class:IdEntityWithAccessionedSequence:5339694
_displayNameLRP5 D666_L809del [plasma membrane]
_timestamp2023-04-01 00:25:26
compartment[Compartment:876] plasma membrane
created[InstanceEdit:5339693] Rothfels, K, 2014-03-07
disease[Disease:1500576] breast cancer
[Disease:5339671] parathyroid carcinoma
endCoordinate1615
hasModifiedResidue[FragmentDeletionModification:5339680] Deletion of residues 666 to 809
literatureReference[LiteratureReference:5339673] An LRP5 receptor with internal deletion in hyperparathyroid tumors with implications for deregulated WNT/beta-catenin signaling
[LiteratureReference:5339692] The internally truncated LRP5 receptor presents a therapeutic target in breast cancer
modified[InstanceEdit:9832439] Orlic-Milacic, Marija, 2023-04-01
nameLRP5 D666_L809del
referenceEntity[ReferenceGeneProduct:149847] UniProt:O75197 LRP5 [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:5645670] R-HSA-5339694.2
startCoordinate32
(diseaseEntity)[EntityFunctionalStatus:5339705] loss_of_function of LRP5 del666-809 [plasma membrane]
(input)[FailedReaction:5339711] misspliced mutants of LRP5 support enhanced beta-catenin-dependent signaling [Homo sapiens]
(updatedInstance)[_UpdateTracker:9905868] Update Tracker - [EntityWithAccessionedSequence:5339694] LRP5 D666_L809del [plasma membrane] - v85:[modifyName]
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No pathways have been reviewed or authored by LRP5 D666_L809del [plasma membrane] (5339694)