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Details on Person IKBKG *420Wext*447 [cytosol]

Class:IdEntityWithAccessionedSequence:5262978
_displayNameIKBKG *420Wext*447 [cytosol]
_timestamp2023-02-06 21:30:05
compartment[Compartment:70101] cytosol
created[InstanceEdit:5262932] Shamovsky, V, 2014-02-09
disease[Disease:5228860] primary immunodeficiency disease
endCoordinate446
hasModifiedResidue[FragmentReplacedModification:5262861] Replacement of residues 420 to 420 by WGRPVQGHCLPRTCPGPCSLRPFLPPA
literatureReference[LiteratureReference:5262960] X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
modified[InstanceEdit:5607984] Shamovsky, Veronica, 2014-07-14
[InstanceEdit:5655645] Shamovsky, Veronica, 2014-12-08
[InstanceEdit:9827833] Orlic-Milacic, Marija, 2023-02-06
nameIKBKG *420Wext*447
NEMO *420Wext*447
IKKG X420WextX447
IKK-gamma X420W
Inhibitor of nuclear factor kappa-B kinase gamma subunit
IKBKG *420Trpext*447
IKBKG Ter420TrpextTer447
referenceEntity[ReferenceGeneProduct:60067] UniProt:Q9Y6K9 IKBKG [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:5681730] R-HSA-5262978.2
startCoordinate1
(hasMember)[DefinedSet:5262847] TNFalpha associated IKBKG variants [cytosol] [Homo sapiens]
[DefinedSet:5262931] TLR associated IKBKG variants [cytosol] [Homo sapiens]
(updatedInstance)[_UpdateTracker:9904810] Update Tracker - [EntityWithAccessionedSequence:5262978] IKBKG *420Wext*447 [cytosol] - v84:[modifyEndCoordinate, modifyName]
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No pathways have been reviewed or authored by IKBKG *420Wext*447 [cytosol] (5262978)