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Query author contributions in Reactome

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Details on Person F8 variant is not secreted

Class:IdFailedReaction:9661980
_displayNameF8 variant is not secreted
_doReleaseTRUE
_timestamp2020-05-26 22:03:19
authored[InstanceEdit:9660568] Shamovsky, Veronica, 2019-09-09
compartment[Compartment:17957] endoplasmic reticulum lumen
created[InstanceEdit:9662041] Shamovsky, Veronica, 2019-09-19
disease[Disease:9661959] factor VIII deficiency
edited[InstanceEdit:9690131] Shamovsky, Veronica, 2020-05-26
entityFunctionalStatus[EntityFunctionalStatus:9661976] loss_of_function of Non-secretable F8 variant [endoplasmic reticulum lumen]
input[CandidateSet:9661970] Non-secretable F8 variant [endoplasmic reticulum lumen] [Homo sapiens]
isChimericFALSE
literatureReference[LiteratureReference:9661951] Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A
[LiteratureReference:9662038] Factor VIII C2 domain missense mutations exhibit defective trafficking of biologically functional proteins
[LiteratureReference:9662005] Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis
[LiteratureReference:9661977] Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM(-)) and G1948D (CRM(r))
[LiteratureReference:9662039] Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A
[LiteratureReference:9662022] Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII
[LiteratureReference:9662009] Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII
[LiteratureReference:9666367] Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity
modified[InstanceEdit:9663099] Shamovsky, Veronica, 2019-09-25
[InstanceEdit:9672980] Shamovsky, Veronica, 2020-01-03
[InstanceEdit:9676086] Shamovsky, Veronica, 2020-02-07
[InstanceEdit:9676353] 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
nameF8 variant is not secreted
normalReaction
releaseDate2020-06-10
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:9662057] R-HSA-9661980.2
summation[Summation:9663100] Hemophilia A (HA) is an X-linked, recessive coagulation diso...
(hasEvent)[Pathway:9672397] Defective F8 secretion [Homo sapiens]
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No pathways have been reviewed or authored by F8 variant is not secreted (9661980)
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