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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
KIT K550I;P551_V555del [plasma membrane]
Show undefined attributes
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compartment
[Compartment:876] plasma membrane
componentOf
[Complex:R-HSA-9669669] KIT K550I P551_V555del dimer [plasma membrane] - Homo sapiens
[Complex:R-HSA-9669669] KIT K550I P551_V555del dimer [plasma membrane] - Homo sapiens
created
[InstanceEdit:9669459] Rothfels, Karen, 2019年12月03日
crossReference
[DatabaseIdentifier:11944977] Mondo:0011719
[DatabaseIdentifier:11944892] Mondo:0004992
dbId
9669444
disease
[Disease:9661830] gastrointestinal stromal tumor
[Disease:1500689] cancer
displayName
KIT K550I;P551_V555del [plasma membrane]
endCoordinate
976
hasModifiedResidue
[ReplacedResidue:9669442] L-lysine 550 replaced with L-isoleucine
[FragmentDeletionModification:9669439] Deletion of residues 551 to 555
inDisease
true
literatureReference
[LiteratureReference:9669122] Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors
maxDepth
1
memberOf
[CandidateSet:R-HSA-9669757] juxtamembrane domain KIT mutants [plasma membrane] - Homo sapiens
[DefinedSet:R-HSA-9669766] masitinib sensitive KIT mutants [plasma membrane] - Homo sapiens
modified
[InstanceEdit:9829023] Orlic-Milacic, Marija, 2023年02月21日
name
KIT K550I;P551_V555del
Mast/stem cell growth factor receptor precursor
KIT_HUMAN
c-KIT
referenceEntity
[ReferenceGeneProduct:uniprot:P10721] UniProt:P10721 KIT
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9669444
startCoordinate
26
updateTrackers
[UpdateTracker:9904678] Update Tracker - [EntityWithAccessionedSequence:9669444] KIT K550I;P551_V555del [plasma membrane] - v84:[modifyName]
Referrals
(updatedInstance)
[UpdateTracker:9904678] Update Tracker - [EntityWithAccessionedSequence:9669444] KIT K550I;P551_V555del [plasma membrane] - v84:[modifyName]
(hasMember)
[CandidateSet:R-HSA-9669757] juxtamembrane domain KIT mutants [plasma membrane]
[DefinedSet:R-HSA-9669766] masitinib sensitive KIT mutants [plasma membrane]
[DefinedSet:R-HSA-9669750] imatinib sensitive KIT mutants [plasma membrane]
[DefinedSet:R-HSA-9669742] dovitinib sensitive KIT mutants [plasma membrane]
(hasComponent)
[Complex:R-HSA-9669669] KIT K550I P551_V555del dimer [plasma membrane]
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