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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
KIT N822K [plasma membrane]
Show undefined attributes
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compartment
[Compartment:876] plasma membrane
created
[InstanceEdit:9669459] Rothfels, Karen, 2019年12月03日
crossReference
[DatabaseIdentifier:11944977] Mondo:0011719
[DatabaseIdentifier:11945434] Mondo:0003669
[DatabaseIdentifier:11944921] Mondo:0018874
[DatabaseIdentifier:11944898] Mondo:0005105
[DatabaseIdentifier:11944892] Mondo:0004992
[DatabaseIdentifier:9669305] COSMIC:COSV55387147
[DatabaseIdentifier:9669327] COSMIC:COSV55389584
[DatabaseIdentifier:9669310] COSMIC:COSM19023
dbId
9669464
disease
[Disease:1500689] cancer
[Disease:9630839] acute myeloid leukemia
[Disease:9669018] testis seminoma
[Disease:9661830] gastrointestinal stromal tumor
[Disease:1614289] melanoma
displayName
KIT N822K [plasma membrane]
endCoordinate
976
hasModifiedResidue
[ReplacedResidue:9669440] L-asparagine 822 replaced with L-lysine
inDisease
true
literatureReference
[LiteratureReference:9669064] Amplification of a novel c-Kit activating mutation Asn(822)-Lys in the Kasumi-1 cell line: a t(8;21)-Kit mutant model for acute myeloid leukemia
[LiteratureReference:9669213] KIT mutations are common in testicular seminomas
maxDepth
1
memberOf
[CandidateSet:R-HSA-9669760] kinase domain KIT mutants [plasma membrane] - Homo sapiens
[DefinedSet:R-HSA-9669738] midostaurin sensitive KIT mutants [plasma membrane] - Homo sapiens
[CandidateSet:R-HSA-9681384] ripretinib-sensitive KIT mutants [plasma membrane] - Homo sapiens
[DefinedSet:R-HSA-9669825] regorafenib sensitive KIT mutants [plasma membrane] - Homo sapiens
name
KIT N822K
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-9669464
startCoordinate
26
Referrals
(hasMember)
[CandidateSet:R-HSA-9669760] kinase domain KIT mutants [plasma membrane]
[DefinedSet:R-HSA-9669825] regorafenib sensitive KIT mutants [plasma membrane]
[DefinedSet:R-HSA-9669738] midostaurin sensitive KIT mutants [plasma membrane]
[CandidateSet:R-HSA-9681384] ripretinib-sensitive KIT mutants [plasma membrane]
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