Query author contributions in Reactome
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Details on Person SHOC2 Q269_H270delinsHY [cytosol]
| Class:Id | EntityWithAccessionedSequence:9660464 |
|---|---|
| _displayName | SHOC2 Q269_H270delinsHY [cytosol] |
| _timestamp | 2019-09-09 19:51:16 |
| compartment | [Compartment:70101] cytosol |
| created | [InstanceEdit:9660463] Rothfels, Karen, 2019-09-09 |
| disease | [Disease:6802289] Noonan syndrome |
| endCoordinate | 582 |
| hasModifiedResidue | [FragmentReplacedModification:9660465] Replacement of residues 269 to 270 by HY |
| literatureReference | [LiteratureReference:9660380] Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy |
| name | SHOC2 Q269_H270delinsHY Leucine-rich repeat protein SHOC-2 SHOC2_HUMAN |
| referenceEntity | [ReferenceGeneProduct:64440] UniProt:Q9UQ13 SHOC2 [Homo sapiens] |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:9660466] R-HSA-9660464.1 |
| startCoordinate | 1 |
| (hasMember) | [DefinedSet:9660468] SHOC2 gain-of-function mutants [cytosol] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by SHOC2 Q269_H270delinsHY [cytosol] (9660464)
