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Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
NFKBIA F2_M37del [cytosol]
Show undefined attributes
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compartment
[Compartment:70101] cytosol
created
[InstanceEdit:9630118] Shamovsky, Veronica, 2018年11月29日
crossReference
[DatabaseIdentifier:11945161] Mondo:0003778
[DatabaseIdentifier:9830906] ClinGen:CA123693
[DatabaseIdentifier:9830904] ClinGen:CA389455462
[DatabaseIdentifier:9830903] ClinGen:CA10603205
[DatabaseIdentifier:9830907] ClinGen:CA123696
dbId
9630119
deleted
[Deleted:9630126] Deletion of instances: 5228800, 5228774, 5228773
disease
[Disease:5228860] primary immunodeficiency disease
displayName
NFKBIA F2_M37del [cytosol]
endCoordinate
317
hasModifiedResidue
[FragmentDeletionModification:5228817] Deletion of residues 1 to 36
inDisease
true
maxDepth
1
memberOf
[DefinedSet:R-HSA-5228863] NFKBIA variants [cytosol] - Homo sapiens
modified
[InstanceEdit:9831580] Orlic-Milacic, Marija, 2023年03月22日
name
NFKBIA F2_M37del
IkBA F2_M37del
NF-kappaB inhibitor alpha
IkappaBalpha
NFKBIA Q9*
NFKBIA Gln9Ter
NFKBIA W11*
NFKBIA Trp11Ter
NFKBIA E14*
NFKBIA Glu14Ter
referenceEntity
[ReferenceGeneProduct:uniprot:P25963] UniProt:P25963 NFKBIA
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9630119
startCoordinate
37
summation
[Summation:9630120] The NFKBIA F2_M37del is an N-terminal truncated protein that...
updateTrackers
[UpdateTracker:9905905] Update Tracker - [EntityWithAccessionedSequence:9630119] NFKBIA F2_M37del [cytosol] - v85:[addName]
Referrals
(updatedInstance)
[UpdateTracker:9905905] Update Tracker - [EntityWithAccessionedSequence:9630119] NFKBIA F2_M37del [cytosol] - v85:[addName]
(replacementInstances)
[Deleted:9630126] Deletion of instances: 5228800, 5228774, 5228773
(hasMember)
[DefinedSet:R-HSA-5228863] NFKBIA variants [cytosol]
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