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Details on Person Non-secretable SERPING1 variants [endoplasmic reticulum lumen]

Class:IdCandidateSet:9650455
_displayNameNon-secretable SERPING1 variants [endoplasmic reticulum lumen]
_timestamp2020-02-13 05:17:40
compartment[Compartment:17957] endoplasmic reticulum lumen
created[InstanceEdit:9650469] Shamovsky, Veronica, 2019-06-21
disease[Disease:9650398] C1 inhibitor deficiency
hasCandidate
hasMember
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:9650328] Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency
[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:9650523] Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema
[LiteratureReference:9650449] Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function
modified[InstanceEdit:9651389] Shamovsky, Veronica, 2019-06-25
[InstanceEdit:9651450] Shamovsky, Veronica, 2019-06-26
[InstanceEdit:9676354] Shamovsky, Veronica, 2020-02-13
nameNon-secretable SERPING1 variants
HAE type 1-causing SERPING1 variants
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9650603] R-HSA-9650455.1
(diseaseEntity)[EntityFunctionalStatus:9650519] loss_of_function of Non-secretable SERPING1 variants [endoplasmic reticulum lumen]
(input)[FailedReaction:9650447] SERPING1 variant is not secreted [Homo sapiens]
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No pathways have been reviewed or authored by Non-secretable SERPING1 variants [endoplasmic reticulum lumen] (9650455)
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