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Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
p-BRAF F595L [plasma membrane]
Show undefined attributes
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compartment
[Compartment:876] plasma membrane
created
[InstanceEdit:8936642] Rothfels, Karen, 2016年08月22日
crossReference
[DatabaseIdentifier:11944930] Mondo:0007893
[DatabaseIdentifier:11944926] Mondo:0015280
[DatabaseIdentifier:11944924] Mondo:0018997
[DatabaseIdentifier:11944899] Mondo:0005575
[DatabaseIdentifier:11945164] Mondo:0004986
[DatabaseIdentifier:6802315] COSMIC:COSV56127790
[DatabaseIdentifier:6802318] COSMIC:COSV56088678
[DatabaseIdentifier:9651197] ClinGen:CA280071
[DatabaseIdentifier:9651198] ClinGen:CA280058
[DatabaseIdentifier:9651200] ClinGen:CA295915
dbId
8936641
disease
[Disease:4791250] colorectal cancer
[Disease:1493885] bladder carcinoma
[Disease:9651118] LEOPARD syndrome
[Disease:6802289] Noonan syndrome
[Disease:9651119] cardiofaciocutaneous syndrome
displayName
p-BRAF F595L [plasma membrane]
endCoordinate
766
hasModifiedResidue
[ReplacedResidue:6802317] L-phenylalanine 595 replaced with L-leucine
[ModifiedResidue:5672668] O-phospho-L-serine at 446
[ModifiedResidue:5672670] O-phospho-L-serine at 729
[ModifiedResidue:5672675] O-phospho-L-threonine at 599
[ModifiedResidue:5672677] O-phospho-L-serine at 602
inDisease
true
literatureReference
[LiteratureReference:5672236] Mutations of the BRAF gene in human cancer
[LiteratureReference:5672469] Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF
[LiteratureReference:9651008] Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
[LiteratureReference:9651044] Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
maxDepth
1
memberOf
[CandidateSet:R-HSA-8936658] phosphorylated moderate kinase activity BRAF mutants [plasma membrane] - Homo sapiens
modified
[InstanceEdit:9651203] Rothfels, Karen, 2019年06月25日
name
p-BRAF F595L
B-RAF
referenceEntity
[ReferenceGeneProduct:uniprot:P15056] UniProt:P15056 BRAF
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-8936641
startCoordinate
2
updateTrackers
[UpdateTracker:9900626] Update Tracker - [EntityWithAccessionedSequence:8936641] p-BRAF F595L [plasma membrane] - v70:[addDisease, addLiteratureReference, modifyName]
Referrals
(updatedInstance)
[UpdateTracker:9900626] Update Tracker - [EntityWithAccessionedSequence:8936641] p-BRAF F595L [plasma membrane] - v70:[addDisease, addLiteratureReference, modifyName]
(hasMember)
[CandidateSet:R-HSA-8936658] phosphorylated moderate kinase activity BRAF mutants [plasma membrane]
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