Reactome | Non-secretable F8 variant [endoplasmic reticulum lumen]

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Non-secretable F8 variant [endoplasmic reticulum lumen] Show undefined attributes

compartment	[Compartment:17957] endoplasmic reticulum lumen
consumedByEvent	[FailedReaction:R-HSA-9661980] F8 variant is not secreted - Homo sapiens
created	[InstanceEdit:9662041] Shamovsky, Veronica, 2019-09-19
crossReference	[DatabaseIdentifier:12020814] Mondo:0010602
dbId	9661970
disease	[Disease:9661959] factor VIII deficiency
displayName	Non-secretable F8 variant [endoplasmic reticulum lumen]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-9661986] F8 C348R [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661946] F8 G1967D [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662042] F8 N1941D [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661975] F8 M633I [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661941] F8 G720D [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670229] F8 P2067L [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670231] F8 P2162L [endoplasmic reticulum lumen] - Homo sapiens
hasMember	[EntityWithAccessionedSequence:R-HSA-9662023] F8 R612C [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661996] F8 N637S [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661974] F8 C348S [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661995] F8 R2326L [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661945] F8 R2326Q [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662030] F8 N1941S [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661979] F8 N601D [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661973] F8 N601H [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661938] F8 N601K [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662006] F8 D599H [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662017] F8 D599V [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662011] F8 R602G [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662032] F8 S603C [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661989] F8 S603G [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661964] F8 S603R [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661936] F8 S603T [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661991] F8 E600D [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661978] F8 E600K [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662015] F8 E600Q [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661984] F8 W604C [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661993] F8 W604R [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661966] F8 M633T [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662034] F8 A488S [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661961] F8 A488T [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9661985] F8 G720S [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662689] F8 D845E [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662692] F8 P947R [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662694] F8 E1057K [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662693] F8 H1066Y [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9662699] F8 R1126W [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9663089] F8 R1329H [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9663091] F8 L1481P [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9663094] F8 A1610S [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9666350] F8 G2013R [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9666355] F8 R2016W [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9666353] F8 V2144_Y2351delinsHGVLENGKNWEPSYRW [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9666368] F8 A20_M2143delinsMRIQDPGK [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9672984] F8 N2137Q [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9673152] F8 D337N [endoplasmic reticulum lumen] - Homo sapiens
inDisease	true
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: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:9662038] Factor VIII C2 domain missense mutations exhibit defective trafficking of biologically functional proteins [LiteratureReference:9662039] Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A [LiteratureReference:9662043] Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein [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:9662336] Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein [LiteratureReference:9666367] Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity [LiteratureReference:9666359] The intron-22-inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics [LiteratureReference:9666369] Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A [LiteratureReference:9670227] Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype [LiteratureReference:9673150] Splicing analysis of 26 F8 nucleotide variations using a minigene assay
maxDepth	2
modified	[InstanceEdit:9673151] Shamovsky, Veronica, 2020-01-06
name	Non-secretable F8 variant Non-secretable FVIII variant
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9661970

Referrals

(input)	[FailedReaction:R-HSA-9661980] F8 variant is not secreted
(diseaseEntity)	[EntityFunctionalStatus:9661976] loss_of_function of Non-secretable F8 variant [endoplasmic reticulum lumen]

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