Reactome | BRAF G534R [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9651135] Rothfels, Karen, 2019-06-25
crossReference	[DatabaseIdentifier:12020780] Mondo:0015280 [DatabaseIdentifier:9651136] ClinGen:CA279978
dbId	9651134
disease	[Disease:9651119] cardiofaciocutaneous syndrome
displayName	BRAF G534R [cytosol]
endCoordinate	766
hasModifiedResidue	[ModifiedResidue:5672668] O-phospho-L-serine at 446 [ModifiedResidue:5672670] O-phospho-L-serine at 729 [ReplacedResidue:9651110] glycine 534 replaced with L-arginine
inDisease	true
literatureReference	[LiteratureReference:9650998] Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome
maxDepth	1
memberOf	[DefinedSet:R-HSA-6802579] high kinase activity BRAF mutants [cytosol] - Homo sapiens
name	BRAF G534R B-RAF
referenceEntity	[ReferenceGeneProduct:uniprot:P15056] UniProt:P15056 BRAF
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9651134
startCoordinate	2

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