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Details on Person BRAF G469E [cytosol]

Class:Id	EntityWithAccessionedSequence:9648618
_displayName	BRAF G469E [cytosol]
_timestamp	2019-06-25 14:52:17
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9648616] Rothfels, Karen, 2019-06-07
crossReference	[DatabaseIdentifier:9648592] COSMIC:COSV56065622
disease	[Disease:1614289] melanoma [Disease:4791250] colorectal cancer [Disease:9651119] cardiofaciocutaneous syndrome [Disease:9651116] Costello syndrome
endCoordinate	766
hasModifiedResidue	[ReplacedResidue:9648607] glycine 469 replaced with L-glutamine [ModifiedResidue:5672668] O-phospho-L-serine at 446 [ModifiedResidue:5672670] O-phospho-L-serine at 729
literatureReference	[LiteratureReference:5672469] Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF [LiteratureReference:9646947] Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma [LiteratureReference:5672236] Mutations of the BRAF gene in human cancer [LiteratureReference:9651037] Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome [LiteratureReference:9651055] Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
modified	[InstanceEdit:9651201] Rothfels, Karen, 2019-06-25
name	BRAF G469E B-RAF
referenceEntity	[ReferenceGeneProduct:58251] UniProt:P15056 BRAF [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9648626] R-HSA-9648618.1
startCoordinate	2
(hasCandidate)	[CandidateSet:6802641] moderate kinase activity BRAF mutants [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by BRAF G469E [cytosol] (9648618)