Reactome | BRAF F595L [cytosol]

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BRAF F595L [cytosol] Show undefined attributes

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:6802314] Rothfels, Karen, 2015-10-02
crossReference	[DatabaseIdentifier:6802315] COSMIC:COSV56127790 [DatabaseIdentifier:6802318] COSMIC:COSV56088678 [DatabaseIdentifier:9651197] ClinGen:CA280071 [DatabaseIdentifier:9651200] ClinGen:CA295915 [DatabaseIdentifier:9651198] ClinGen:CA280058
dbId	6802316
disease	[Disease:4791250] colorectal cancer [Disease:1493885] bladder carcinoma [Disease:6802289] Noonan syndrome [Disease:9651118] LEOPARD syndrome [Disease:9651119] cardiofaciocutaneous syndrome
displayName	BRAF F595L [cytosol]
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
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:9651044] Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome [LiteratureReference:9651008] Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
memberOf	[CandidateSet:R-HSA-6802641] moderate kinase activity BRAF mutants [cytosol] - Homo sapiens
modified	[InstanceEdit:9651199] Rothfels, Karen, 2019-06-25
name	BRAF F595L B-RAF
referenceEntity	[ReferenceGeneProduct:58251] UniProt:P15056 BRAF
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-6802316
startCoordinate	2

Referrals

(hasMember)

[CandidateSet:R-HSA-6802641] moderate kinase activity BRAF mutants [cytosol]

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