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Details on Person SERPING1 variant is not secreted

Class:Id	FailedReaction:9650447
_displayName	SERPING1 variant is not secreted
_doRelease	TRUE
_timestamp	2020-05-26 22:04:28
authored	[InstanceEdit:9660568] Shamovsky, Veronica, 2019-09-09
compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9650469] Shamovsky, Veronica, 2019-06-21
disease	[Disease:9650398] C1 inhibitor deficiency
edited	[InstanceEdit:9690131] Shamovsky, Veronica, 2020-05-26
entityFunctionalStatus	[EntityFunctionalStatus:9650519] loss_of_function of Non-secretable SERPING1 variants [endoplasmic reticulum lumen]
input	[CandidateSet:9650455] Non-secretable SERPING1 variants [endoplasmic reticulum lumen] [Homo sapiens]
isChimeric	FALSE
literatureReference	[LiteratureReference:9650573] Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema [LiteratureReference:9650416] Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight [LiteratureReference:9650323] Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema [LiteratureReference:9650430] F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema [LiteratureReference:9650470] COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization [LiteratureReference:9650449] Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function [LiteratureReference:9650328] Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency [LiteratureReference:9650523] Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema
modified	[InstanceEdit:9652652] Shamovsky, Veronica, 2019-07-01 [InstanceEdit:9672381] Shamovsky, Veronica, 2019-12-25 [InstanceEdit:9676086] Shamovsky, Veronica, 2020-02-07 [InstanceEdit:9676355] Shamovsky, Veronica, 2020-02-13 [InstanceEdit:9681504] Shamovsky, Veronica, 2020-04-02 [InstanceEdit:9686299] Shamovsky, Veronica, 2020-04-29 [InstanceEdit:9687144] Shamovsky, Veronica, 2020-05-06 [InstanceEdit:9690135] Shamovsky, Veronica, 2020-05-26 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	SERPING1 variant is not secreted
normalReaction	[BlackBoxEvent:9650473] SERPING1 is secreted [Homo sapiens]
releaseDate	2020-06-10
reviewed	[InstanceEdit:9673821] D'Eustachio, Peter, 2020-01-09 [InstanceEdit:9681505] Zhang, Bin, 2020-04-02
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9650599] R-HSA-9650447.2
summation	[Summation:9652650] C1-esterase inhibitor (serpin G1, C1-INH, SERPING1) is a 105...
(hasEvent)	[Pathway:4416604] Diseases associated with complement dysregulation [Homo sapiens] [Pathway:9657689] Defective SERPING1 causes hereditary angioedema [Homo sapiens]
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No pathways have been reviewed or authored by SERPING1 variant is not secreted (9650447)